RESUMO
BACKGROUND: Albinism is a group of genetic disorders characterized by general skin and retinal hypopigmentation. It is in most cases an autosomal recessive condition. Foveal hypoplasia (FH) is one of the main criteria for the diagnosis of albinism. The aim of this study was to analyze the macular profile of the parents of patients with albinism. METHODS: This study included a case series of 27 patients with albinism seen in Rothschild Foundation between April 2017 and February 2020. Spectral-domain optical coherence tomography (SD-OCT) and OCT angiography (OCT-A) were performed in every patient when possible and in every available parents. FH was graded according to Thomas' classification based on OCT. Next generation sequencing-based gene panel testing was performed in parents and children when a FH was detected on OCT in a parent. RESULTS: Twenty-seven patients with albinism were examined. Nine parents had FH based on the OCT B-scan (33%). In parents without FH based on the SD-OCT B-scan (67%), OCT-A showed a reduced avascular zone in the deep vascular plexus in 4 parents. Six parents carried variants that could explain their phenotype, including TYR R402Q hypomorphic alleles. CONCLUSION: This study showed the presence of FH in parents of patients with albinism, and aimed to genetically explain this phenotype.
Assuntos
Albinismo Ocular , Albinismo Oculocutâneo , Albinismo , Humanos , Fóvea Central/anormalidades , Retina , Albinismo/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Albinismo Ocular/diagnóstico , Albinismo Ocular/genética , Transtornos da Visão/diagnóstico , Tomografia de Coerência Óptica/métodosRESUMO
PURPOSE: To assess the success rate of a matrix regenerating agent (RGTA) in the treatment of chronic corneal ulcers resistant to conventional treatments. METHODS: Uncontrolled prospective observational study in patients with corneal neurotrophic ulcer (Stage 2 or 3 of the Mackie classification), unresponsive to standard medical or surgical treatments and managed with RGTA as an adjunctive treatment. Corneal ulcers were evaluated using slit-lamp examination and optical coherence tomography after 2 weeks, 1 month, 2 months and 3 months. Success was defined as complete corneal healing. RESULTS: RGTA was administered to 20 patients (20 eyes) with chronic corneal ulcers of various causes, including keratoplasty (7 eyes, 35.0%), herpetic keratitis (5 eyes, 25.0%) and intracorneal ring (3 eyes, 15.0%). Total corneal healing was observed in 13/20 patients (65.0%) within 1 to 3 months. RGTA was discontinued due to partial healing/ulcer stagnation in 6 patients (30.0%), and aggravation of the ulcer in 1 patient (5.0%). Relapses were reported in 4 patients (20.0%) several months after cessation of RGTA treatment. No adverse reactions were noted. CONCLUSIONS: In the event of failure of conventional treatments, RGTA may be an alternative medical treatment for patients with chronic corneal ulcers, avoiding the need to resort to surgical treatment.