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Stickler Syndrome

Home / Retina and Vitreous / Retinal Detachment and Schisis

Title: Stickler Syndrome
Author (s): Michael R. Christensen, MS-IV, Virginia Commonwealth University School of Medicine; Charles Calvo, MD.
Photographer: Moran Eye Center Photography
Date: 06/26/2018
Keywords/Main Subjects: Stickler Syndrome
Diagnosis: Stickler Syndrome

Secondary CORE Categories: Retina and Vitreous / Congenital and Developmental AbnormalitiesPediatric Ophthalmology and Strabismus /Ocular Manifestations of Systemic Disease: Diseases due to Chromosomal Abnormalities
Brief Description: The Stickler Syndromes, also known as hereditary or progressive oculoarthropathy, refer to a collection of chromosomal mutations most commonly inherited in an autosomal dominant pattern associated with abnormal collagen production (types II, IX, and XI) all of which are components of vitreous. The condition often manifests early in life with primarily ocular symptoms but may include other systemic symptoms.

Fundus photograph of patient with Stickler Syndrome showing vitreous bands preventing a focused view of the underlying retina

Fundus image from the same patient showing vitreous veils and bands (green)

Fundus image from the same patient showing vitreous veils and bands (green)

Age & Gender: The condition classically presents in the pediatric population in the setting of other facial and systemic findings.  It can also be detected after retinal detachment at any age, but most commonly in young adulthood. It does not have a strong gender preference.

Genotype: Several genetic loci have been implicated in this disease.  The most common autosomal dominant form is associated with mutations in a large gene on chromosome 12, encoding type II collagen (Type 1, COL2A1). Less common forms include defects in genes on chromosome 1, encoding type XI collagen (Type II, COL11A1) and chromosome 6 (type III, COL11A2).  The rarest are autosomal recessive forms caused by defects in genes encoding type IX collagen (Type IV, COL9A1, COL9A2, COL9A3)

Symptoms: There is a wide range of symptoms depending on the underlying genetic defect. Type 1 and type 2 present similarly with ocular symptoms including visual field loss as result of rhegmatogenous retinal detachments,  decreased visual acuity secondary to myopia or cataract, and elevated intraocular pressure due to associated juvenile-onset open angle glaucoma. Classic systemic symptoms include hearing loss and joint pain.  The syndrome may present with micrognathia and macroglossia resulting in cleft palate (Pierre-Robin sequence). Type 2 is characterized by the exam finding of beaded vitreous.  Type 3 has systemic symptoms but lacks ocular involvement.  Type 4 has ocular involvement but lacks systemic findings.

Environmental Factors or Other Considerations: The only known risk factor is a family history of the condition. A child of an affected parent has at least a 50% chance of manifesting the condition. Retinal detachment is estimated to occur in 65% of affected patients.

Treatment: There is no treatment of Stickler syndrome for the underlying genetic deficiency, so treatments are aimed at managing the complications. There is growing evidence to suggest that 360-degree cryotherapy or laser may reduce rates of retinal detachment, but studies have been based on retrospective analyses. Cataracts can be removed surgically, which may improve acuity, but the decision to perform cataract surgery must be carefully considered because of the increased risk of retinal detachment in Stickler syndrome and after cataract surgery. Glaucoma may be treated medically and surgically.

Pathophysiology: Collagen is an important component of human vitreous.  Normal collagen is composed of three fibrils formed from polypeptide chains that are processed into stable trimers. Mutations in collagen genes lead to dysfunction of the production and assembly of the polypeptide chains, resulting in unstable mature collagen and the clinical manifestations of Stickler Syndrome.

Differential Diagnosis: Knobloch syndrome, Wagner syndrome, Multiple Epiphyseal dysplasia, Metatropic dysplasia, Marshall Syndrome

References:

  1. Originally published in: Hartnett, Mary Elizabeth. Pediatric retina: medical and surgical approaches. 2nd Ed. Philadelphia: Lippincott Williams & Wilkins, 2005.
  2. Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.J Pediatr. 1998 Feb;132(2):368-71. PubMed PMID: 9506662.
  3. Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.Am J Hum Genet. 1999 Oct;65(4):974-83. PubMed PMID: 10486316; PubMed Central PMCID: PMC1288268.
  4. Hromas, Alan. American Academy of Ophthalmology. Eye Wiki: Stickler Syndrome. 2017
  5. Wubben TJ,Branham KH, Besirli CG, Bohnsack BL. Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations. Ophthalmic Genet. 2018 Aug 21:1-4.

Faculty Approval by: M. E. Hartnett, MD

Identifier: Moran_CORE_25410

Copyright statement: Copyright ©2018. For further information regarding the rights to this collection, please visit: http://morancore.utah.edu/terms-of-use/


Choroideremia

Home / Retina and Vitreous / Pediatric Retina – Macula

Title: Choroideremia
Authors: Michael R. Christensen, MS-IV, Virginia Commonwealth University School of Medicine; Charles Calvo, MD
Photographer: Moran Eye Center Photography
Date: 09/03/2018
Keywords/Main Subjects: Choroideremia, Retina, dystrophy, X-linked
Diagnosis: Choroideremia
Brief Description: Choroideremia refers to an X-linked genetic chorioretinal dystrophy that results in atrophy of cells in the RPE, choroid, and outer retina.

Fundus Photography from a teenage boy with 20/20 central vision and choroidoremia. The classic appearance shows macular-sparing choroidal atrophy.

Age & Gender: This is a condition that occurs almost exclusively in males, although female carriers can rarely be affected later in life. It generally presents in a male’s second or third decade and worsens dramatically in the sixth or seventh decade.

Genotype: X-linked mutations in the CHM gene which result in an absence of REP-1 (Rab escort protein).

Symptoms: The presentation is characterized by progressive vision loss usually in males.  The first symptom is often impairment of night vision early in childhood (nyctalopia).  Next, the field of vision narrows with a decrease in visual acuity. Ultimately the condition leads to loss of visual acuity and legal blindness as early as the third or fourth decade. However, some studies have shown a majority of patients with choroideremia maintaining good central vision and visual acuity until the seventh decade of life.

Environmental Factors or Other Considerations: Northern Finland has the highest reported prevalence of Choroideremia.

Treatment: The management of choroideremia consists of treating its manifestations: correction of retinal detachment and cataract, UV sunglasses, vitamin supplementation, as well as social support for visual impairment.

Definitive cure does not yet exist, but several trials are underway that use gene therapy to attempt to replace the deficient protein showing promising results.  The treatment involves delivery of nonmutated CHM to a patient’s eye in an adenovirus vector.  Several trials exhibit promising evidence of vision preservation compared to control.

Pathophysiology: REP-1 (RAB escort protein) is fairly ubiquitous throughout the body. The protein serves an important role in intercellular transport. Most cells in the body have additional sister proteins that can compensate and restore normal cell function in the absence of REP-1 (such as REP-2).  However, in the retina REP-2 concentration is diminished or absent resulting in atrophy of cells in the RPE, choroid, and outer retina similar to what is seen in choroideremia.

Differential Diagnosis: Retinitis Pigmentosa, Gyrate atrophy, Ocular albinism.

References:

  1. Originally published in: Hartnett, Mary Elizabeth. Pediatric retina: medical and surgical approaches. 2nd Philadelphia: Lippincott Williams & Wilkins, 2005.
  2. MacDonald IM, Russell L, Chan C-C. Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol. 2009;54:401–407.
  3. MacDonald IM, Hume S, Chan S, et al. Choroideremia. 2003 Feb 21 [Updated 2015 Feb 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1337/
  4. Barnard AR, Groppe M, MacLaren RE. Gene therapy for choroideremia using an adeno-associated viral (AAV) vector.Cold Spring Harb Perspect Med. 2014 Oct 30;5(3):a017293. doi: 10.1101/cshperspect.a017293. Review. PubMed PMID: 25359548; PubMed Central PMCID: PMC4355255.
  5. MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. 2014 Mar 29;383(9923):1129-37. doi: 10.1016/S0140-6736(13)62117-0. Epub 2014 Jan 16. PubMed PMID: 24439297; PubMed Central PMCID: PMC4171740.
  6. Bracha, Peter. American Academy of Ophthalmology. Eye Wiki: Stickler Syndrome. 2017

Faculty Approval by: M.E. Hartnett, MD

Copyright statement: Copyright ©2018. For further information regarding the rights to this collection, please visit: http://morancore.utah.edu/terms-of-use/


Coats’ Disease

Home / Retina and Vitreous / Abnormal Retinal Vasculature

Title: Coats’ Disease
Author (s): Tyler Boulter, BS; Charles Calvo, MD; Daniel Churgin, MD
Photographer: Moran Eye Center photography
Date: 08-23-2017
Keywords/Main Subjects: Coats’ Disease, Exudative retinopathy, Pediatric Ophthalmology
Brief Description:
Coats’ disease was first described in 1908 and is an idiopathic, typically unilateral, retinal vasculopathy that manifests with a spectrum of findings which can include retinal telangiectasia, exudation, and exudative retinal detachment.1-4 Coats’ disease shows a male predominance, occurs more often in early childhood, and can lead to vision loss.5 Less commonly, this condition presents in teenagers and young adults with less aggressive features.4 No racial or ethnic preference has been shown.5

Coats’ disease classification and management has evolved over time, changing with advances in imaging techniques. The most recent classification was published by Shields et al. in 2000, and is listed below.3

 


Images:

Figure 1: Fluorescein angiogram of the right eye showing vascular non-perfusion and terminal vascular bulbs

Figure 2: Color fundus photo of the right eye showing diffuse yellow exudation in stage 2B Coats’ disease

 

Symptoms: Painless gradual vision loss is the primary symptom. The most common signs include: strabismus, leukocoria, and visual impairment.5

Environmental Factors or Other Considerations: No environmental factors have been linked to Coats’ onset or severity.5 Genetic causes have been proposed without any clear evidence.5

Treatment:  The main goal of treatment is to eradicate the telangiectasias and facilitate resolution of exudation, salvaging as much vision as possible. Historically, treatment was based on clinical findings. However, with the advent of wide-field imaging, the first step which guides treatment is now wide-angle fluorescein angiography to identify areas of leakage and capillary dropout. Low power and continuous laser is used to treat leaking vascular abnormalities and low power repeated spots of scatter laser treatment can be used to treat avascular areas of retina. Still investigational is the use of anti-angiogenic treatments, such as those neutralizing the bioactivity of vascular endothelial growth factor (VEGF). One hypothesis being considered for anti-VEGF agents is to reduce the choroioretinal anastomosis that occurs in the macula with macular exudates but this is still conjecture without strong evidence. Cryotherapy is avoided if at all possible. If there are areas of serous fluid consideration to external drainage and laser or cryotherapy to vascular areas is given. In advanced Coats’, external drainage, pars plana vitrectomy and endolaser to leaking vessels with silicone oil may be needed.

Stable cases may be observed.3, 7

However, Coats’ disease has been reported to recur even 10 years after initial diagnosis so life-long observation is recommended.8

Pathophysiology: The exact mechanism remains elusive, but there is some evidence that local retinal hypoxia and/or vascular changes may serve to initiate the disease process.1, 9  In addition, there are studies looking at molecular defects in members of  the Wnt signaling pathway also implicated in other conditions such as familial exudative vitreoretinopathy (FEVR) and persistent fetal vasculature (PFV).

 Differential Diagnosis:  The differential includes: retinoblastoma, retinal capillary angioma, familial exudative vitreoretinopathy (FEVR), retina of prematurity (ROP), persistent fetal vasculature syndrome, pars planitis, ocular toxocariasis, and incontinentia pigmenti. 5

 

References:

  1. Coats G. Forms of retinal diseases with massive exudation. Royal London Ophthalmic Hosp Rep.1908; 17: 440–525.
  2. Cahill M, O’Keefe M, Acheson R, Mulvihill A, Wallace D, Mooney D. Classification of the spectrum of Coats’ disease as subtypes of idiopathic retinal telangiectasis with exudation. Acta Ophthalmol Scand. 2001; 79(6):596–602.
  3. Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Classification and management of Coats disease: the 2000 Proctor Lecture. Am J Ophthalmol. 2001; 131(5):572–583.
  4. Smithen LM, Brown GC, Brucker AJ, Yannuzzi LA, Klais CM, Spaide RF. Coats’ disease diagnosed in adulthood. Ophthalmology. 2005; 112:1072–1078.
  5. Originally published in: Hartnett, Mary Elizabeth. Pediatric retina: medical and surgical approaches. 2nd Ed. Philadelphia: Lippincott Williams & Wilkins, 2005.
  6. Gomez Morales A. Coats’ disease. Natural history and results of treatment. Am J Ophthalmol 1965; 60:855-864
  7. Ganesan S, Rishi E. Surgical implications in exudative retinal detachment. Sci J Med & Vis Res. 2017; 35: 29-36.

Acknowledgement: The authors acknowledge Wolters Kluwer/ Lippincott Williams and Wilkins [Pediatric retina: medical and surgical approaches. 2nd Ed. Philadelphia: Lippincott Williams & Wilkins, 2005].

Faculty Approval by: M.E.Hartnett

Copyright statement: Copyright ©2017 Boulter, Calvo, Churgin. For further information regarding the rights to this collection, please visit: http://morancore.utah.edu/terms-of-use/

 


Retinopathy of Prematurity (ROP)

Home / Retina and Vitreous / Retinal Detachment and Schisis
Title: Retinopathy of Prematurity (ROP)
Authors: Justine Cheng, AB; Charles Calvo, MD and Daniel Churgin, MD, Visiting Instructors, Department of Ophthalmology, University of Utah
Photographer: Moran Eye Center Photography
Date: 08/23/2017
Keywords/Main Subjects: Retinopathy of prematurity; ROP
Diagnosis: Retinopathy of Prematurity
Brief Description: In the United States, retinopathy of prematurity (ROP) typically affects infants who weigh less than 1500g and born younger than 30 weeks of gestational age. Also at risk are infants who receive supplemental oxygen. In countries where resources for prenatal care and oxygen regulation are not optimal or available, ROP is seen in infants born at higher birth weights and older gestational ages. ROP is characterized by incomplete vascularization of the inner retina. There are three zones of vascularization included in the classification of ROP based on the extent of inner retinal vascularization: zone 1 is the area encompassing a circle centered on the optic nerve and the radius is twice the distance from the optic nerve to the fovea; zone 2 is a circle centered on the optic nerve with a radius from optic disc to the nasal ora serrata; and zone 3 is the remaining temporal crescent. There are five stages that describe the junction between vascular and avascular areas of the retina. In stage 1, this junction is a line. In stage 2, it becomes a ridge with obvious volume. Stage 3 refers to neovascularization extending from the ridge into the vitreous. At stage 4, there is partial retinal detachment, with stage 4A and 4B defined as with and without macular involvement respectively. Finally, in stage 5, there is total retinal detachment (images of the 5 stages are provided below). In addition to the zones and stages, plus disease is another parameter in classifying severity of ROP that is based on arterial and venous dilation and vessel tortuosity at the posterior pole.

The decision to treat an infant with ROP is based on the severity of disease. Historically, threshold ROP was used to signify severe ROP, which is defined as the level of severity that has a 50% of risk of developing unfavorable anatomic outcomes. Prethreshold ROP represented disease severity with high risk of developing threshold ROP. However, treatment is now based on the classification scheme from the ETROP trial (see table 2), which categorizes severe ROP, or type I, as having ≥ 15% risk of developing unfavorable outcomes (see table 1). The diagnosis of type 1 ROP includes the threshold disease.

Images:

Stage 1 ROP

Stage 2 ROP

Stage 3 ROP

Stage 3 severe ROP

Stage 4 ROP

Color fundus RetCam photo of the left eye showing type 1 ROP, categorized by plus disease in zone 1, stage 3 with retinal hemorrhages.

Age & Gender: Age of onset for most infants is around 32 weeks postmenstrual age (e.g. gestational age plus chronologic age in weeks). When severe ROP develops, it appears between 35 and 37 weeks postmenstrual age.

ROP Symptoms: There are no symptoms that are specific for ROP. Thus, screening is necessary for accurate and timely diagnosis.
Pathophysiology: Retinal vascular development begins around 16 weeks of gestation. Prematurity interrupts this process. Other stresses including high oxygen at birth, fluctuations in oxygenation, poor postnatal growth, oxidative stress can worsen pathology by triggering abnormal angiogenic signaling through vascular endothelial growth factor (VEGF) and other pathways that cause blood vessel to grow into the vitreous instead of into the retina. There are also neurovascular interactions that play into the pathophysiology of ROP.
Treatment: Regulation of oxygen delivery and prenatal care may reduce ROP, but once severe ROP develops, treatment is needed and can include laser or cryotherapy to the avascular retina. Studies are testing the safety and efficacy of compounds that interfere with angiogenic bioactivity including anti-VEGF agents. Below are some of the clinical trials and their roles in ROP management.

Environmental Factors or Other Considerations: There are some elements of neonatal care for premature infants that can affect ROP risk. For example, oxygen use, prenatal steroids can affect risk of ROP, and surfactant use may decrease risk. Other associated risk factors for ROP include intraventricular hemorrhage, infection and inflammation, respiratory distress syndrome, bronchopulmonary dysplasia, and patent ductus arteriosus. Poor postnatal growth may be associated with increased risk of ROP but efforts to improve growth have not reduced ROP severity to date.
Differential Diagnosis: Familial exudative vitreoretinopathy (FEVR), Norrie disease, incontinentia pigmenti, congenital retinal fold, Toxocara canis infection, and causes of leukocoria (including but not limited to congenital cataract, retinoblastoma, infections)
References: The authors acknowledge Wolters Kluwer/ Lippincott Williams and Wilkins [Pediatric retina: medical and surgical approaches. 2nd Ed. Philadelphia: Lippincott Williams & Wilkins, 2005].
Faculty Approval by: M.E. Hartnett, MD
Identifier: Moran_CORE_24291
Copyright statement: Copyright ©2017. For further information regarding the rights to this collection, please visit the Terms of Use page.


Familial Exudative Vitreoretinopathy (FEVR)

Home / Retina and Vitreous / Abnormal Retinal Vasculature
Title: Familial Exudative Vitreoretinopathy (FEVR)
Authors:
Lee Ferguson MD, PhD, Ophthalmology Resident, University of Utah; Charles Calvo, MD and Daniel Churgin, MD, Visiting Instructors, Department of Ophthalmology, University of Utah 
Photographer:
Moran Eye Center Photography
Date: 0
8/25/ 2017
Keywords/Main Subjects:
 Familial exudative vitreoretinopathy; FEVR
Diagnosis: F
amilial exudative vitreoretinopathy
Brief Description:
A hereditary eye disease with variable expressivity associated with incomplete vascularization of the peripheral retina and later abnormal vascular development at the junction of the vascular and avascular retina and/or exudation.  Unlike retinopathy of prematurity, individuals are born full-term and of normal birth weight.
Images or video:

Wide Angle FA

Optos fundus photo of the left eye showing Fibrovascular changes temporally and peripheral laser

Peripheral avascular retina in Stage 1 FEVR

Fluorescein angiogram of right eye showing curvilinear pattern of vasculature

Age & Gender: FEVR can present at any age; however, the mean age of onset is 6 yrs. The disease may continue to progress and manifest a number of abnormalities over life, including epiretinal membranes, tractional, serous or rhegmatogenous retinal detachment. There is no gender predilection with this disease.
Genotype:
Several gene variants within the Wnt signaling pathway can cause FEVR and include FZD4, LRP5, TSPAN12, and NDP. The Wnt signaling pathway is important in cellular and tissue development. Other gene variants have been reported including ZNF408. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked recessive pattern. There is not strong evidence that the severity of disease is affected by genotype and it remains unknown if multiple gene variants are involved in disease severity.
Symptoms/Signs:
Often symptoms may not be present because the disease manifests in young children or infants. However, poor vision, and strabismus can be present. High myopia, anisometropia amblyopia, epiretinal membrane, traction retinal detachment, retinal dragging or exudation can be found.
Pathophysiology:
The disease mechanism is related to abnormal development of the retinal vasculature leading to increased leakage and exudation of vascular contents.
Treatment:
The treatment of FEVR is based on disease stage. Stage 1 FEVR is characterized by minimal peripheral avascularity and can be observed. Stage 2 FEVR involves neovascularization at the junction of vascular/avascular junction and can have fluorescein leakage noted. Photocoagulation with laser is recommended in the nonperfused area Stage 3 – 5 FEVR have retinal detachment.
References:
Originally published in: Hartnett, Mary Elizabeth. Pediatric retina: medical and surgical approaches. 2nd Ed. Philadelphia: Lippincott Williams & Wilkins, 2005.
Faculty Approval by:
M.E. Hartnett, MD
Identifier: Moran_CORE_24207
Copyright statement:
Copyright ©2017. For further information regarding the rights to this collection, please visit the Terms of Use page.


Incontinentia Pigmenti

Home / Retina and Vitreous / Abnormal Retinal Vasculature
Title: Fundus and Skin Photography of Incontinentia Pigmenti
Authors: Brian Kirk, MSIV, University of Utah School of Medicine; Charles Calvo, MD and Daniel Churgin, MD, Visiting Instructors, Department of Ophthalmology, University of Utah
Photographer: Moran eye Center Photography
Date: 08/25/2017
Keywords/Main Subjects: Incontinentia Pigmenti (IP)
Diagnosis: Incontinentia Pigmenti
Brief Description: Incontinentia Pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare, X-linked dominant condition that is most commonly manifested through characteristic skin findings. There are varying degrees of ocular, and central nervous system (CNS) involvement due to a progressive vasculopathy.
Images: All images from patients seen at the Moran Eye Center

Fundus photograph of IP patient showing macular hypopigmentation and hemorrhage

Fundus photograph of IP patient showing avascular peripheral retina and neovascularization

Examples of Skin Lesions in Incontinentia Pigmenti:

 

Age & Gender: IP is almost exclusively found in females, given homozygosity of the x-linked gene is lethal in utero.
Genotype: Mutations in genes encoding for an essential modulator (NEMO) of nuclear factor kappa B (NF-κB) have been identified as the cause of the disease. Even though NF-κB is ubiquitous, most the pathology occurs in the vascular tissue of the eye.
Symptoms: There is great variability in the expression of symptoms and signs. Vision loss is the most common ocular symptom. This can occur through disease of the retina, optic nerve, and brain.
Systemic symptoms are most commonly related to skin findings that pass through distinct stages. The skin changes begin with diffuse blistering and erythema, progressing to characteristic hyperpigmented streaks and whorls along the lines of Blaschko, and pale hairless patches often found on posterior calves. Retinal involvement may herald CNS development. Consideration of imaging with MRI is given especially with any history of seizures. Steroid treatment has been advocated in some severe cases.
Environmental Factors or Other Considerations:
IP is rare, with around 1,000 reported cases. There are no apparent ethnic predispositions. Ocular manifestations occur in approximately 35% of cases, and about one in five cases experience vision-threatening disease. Retinal detachment is most common cause of blindness, occurring in roughly 3% of reported cases. Vitreoretinal involvement is often markedly asymmetric.
Treatment: Treatment involves early screening and peripheral retinal ablation via laser (preferable to cryotherapy) to treat avascular retina and reduce the risk from intravitreal neovascularization. Management of complications such as retinal detachment, cataract, and strabismus may require surgery. Anti-VEGF agents have not been efficacious or generally recommended for IP.
Patients will often require follow up care for non-ocular sequelae from multiple specialties including pediatrics, dermatology, neurology, and dentistry.
Pathophysiology: Retinal, optic nerve, and CNS findings are likely related to small vessel vasculopathy. Retina-related mechanisms of vision loss include vitreous hemorrhage, retinal detachment due to traction from neovascularization, and absent or anomalous macular avascular zone secondary to vascular remodeling after vaso-occlusion.
Optic nerve atrophy is likely secondary to a primary vascular insult or severe retinal disease. Other CNS involvement including seizures, ischemic stroke, microcephaly and encephalopathy are likely related to microvascular occlusions in the deep white matter.
Differential Diagnosis: Retinopathy of prematurity, Familial Exudative Vitreoretinopahty (FEV), Norrie disease, Eales disease, and sickle cell retinopathy.
References: The authors acknowledge Wolters Kluwer/ Lippincott Williams and Wilkins [Pediatric retina: medical and surgical approaches. 2nd Ed. Philadelphia: Lippincott Williams & Wilkins, 2005].
Faculty Approval by: M.E. Hartnett, MD
Identifier: Moran_CORE_24194
Copyright statement: Copyright ©2017. For further information regarding the rights to this collection, please visit the Terms of Use page.