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
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