Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti

Abstract

IMPORTANCE Extended follow-up of treated and untreated retinopathy in incontinentia pigmenti (IP) has not previously been documented, to our knowledge.OBJECTIVE To determine which eyes with IP are at risk for retinal detachment. DESIGN, SETTING, AND PARTICIPANTSObservational cohort study of patients with IP who were retrospectively identified at a tertiary care academic center between 1976 and 2013. Fifty eyes of 25 female participants meeting clinical criteria for IP were followed up for at least 6 months. The last year of follow-up was between 1987 and 2014.MAIN OUTCOMES AND MEASURES Progression of retinopathy or the development of retinal detachment was assessed with fluorescein angiography, clinical examination, or both. RESULTSThe median duration of follow-up was 9.3 years (range, 0.5-22.8 years). Over this period, 11 eyes (22%; 95% CI, 11%-33%) developed retinal detachment. The odds of retinal detachment were increased if there was retinal neovascularization (odds ratio, 11.61; 95% CI, 1.34-100.56; P = .03) or ischemic optic neuropathy (odds ratio, 5.27; 95% CI, 1.61-17.23; P = .006) on initial examination. A bimodal distribution of retinal detachments was observed, with most tractional detachments (7 eyes) occurring by age 2.5 years (median, 1.5 years; range, 14 days-7.0 years) and most rhegmatogenous detachments (4 eyes) occurring in adults (median age, 31.5 years; range, 14.0-47.0 years). Three eyes of young patients (Յ2.5 years) developed tractional detachment, despite prophylactic ablation in 4 eyes; only one eye of older patients (Ն14.0 years) developed retinal detachment following prophylactic ablation in 6 eyes. Persistent fetal vasculature appears to occur more commonly in IP (14%; 95% CI, 4%-25%) than in the general population.CONCLUSIONS AND RELEVANCE All eyes with retinopathy due to IP should be monitored throughout adulthood for the development of retinal complications. During infancy and early childhood, ophthalmoscopic examination should be performed frequently so that prompt treatment can be initiated if there is progressive disease. Because of the nonrandomized nature of this study, the indications for prophylactic ablation and its success rate remain uncertain. Patients with less than 6 months of follow-up were excluded from the analysis, which could have biased this study cohort toward patients with more severe or less severe disease.

Incontinentia pigmenti in a child with suspected retinoblastoma

“…Incontinentia pigmenti (IP), also known as Bloch–Sulzberger syndrome, is a rare X-linked dominant syndrome typically lethal in males, defined by characteristic skin findings along with ocular, neurologic and dental abnormalities [ 1 – 6 ]. The pathogenesis of IP is attributed to a mutation in the NEMO/IKKgamma gene located at the Xq28 loci, which leads to the activation of eotaxin which stimulates accumulation of eosinophils in tissue [ 1 – 5 ].…”

“…Incontinentia pigmenti (IP), also known as Bloch–Sulzberger syndrome, is a rare X-linked dominant syndrome typically lethal in males, defined by characteristic skin findings along with ocular, neurologic and dental abnormalities [ 1 – 6 ]. The pathogenesis of IP is attributed to a mutation in the NEMO/IKKgamma gene located at the Xq28 loci, which leads to the activation of eotaxin which stimulates accumulation of eosinophils in tissue [ 1 – 5 ]. In the skin, IP manifests with a staged rash consisting of erythema, vesicles and pustules at birth, followed by verrucous lesions that evolve into swirled flat hyperpigmentation along the lines of Blaschko, ultimately resulting in linear, atrophic, hypo- and hyper-pigmented streaks [ 2 – 4 ].…”

“…Dental abnormalities include adontia and/or pegged and widely spaced teeth [ 2 – 5 ]. Neurologic manifestations are varied and include seizures, mental retardation, cerebral atrophy, corpus callosum hypoplasia and hemorrhagic necrosis [ 1 – 6 ]. These neurologic findings are closely related to the ophthalmologic manifestations, thought to be caused by similar eosinophilic vasoocclusive phenomena [ 2 , 4 , 5 ].…”

A 7-year-old female child of incontinentia pigmenti presenting with vitreous hemorrhage

“…Several reports have described the efficiency of laser ablation in halting the fibrovascular proliferation and reducing the risk of RD, but in some cases, laser ablation failed to prevent RD. [46] This 7-year-old child had TRD, not RRD, with good result after laser photocoagulation. Pediatric vitreous hemorrhage may have multiple etiologies, but manifest and occult trauma is most common.…”

“…[346] The extent of peripheral nonperfusion or neovascularization may be difficult to recognize clinically; therefore, the ophthalmologic examination for infants should preferably be performed under general anesthesia. Early fluorescein angiography provides the angiographic evidence of peripheral retinal ischemia and thus predicts the severity of retinopathy.…”