RESUMO
We report a case exhibiting the coexistence of anterior and posterior segment pathology in the same eye secondary to a congenital disorder of glycosylation resulting from a DPAGT1 gene mutation. This case details a novel gene mutation in a male infant found to have bilateral congenital cataracts, removed at 6 and 7 weeks of life, only to uncover bilateral retinal and optic atrophy. Our report highlights issues of surgical timing for syndrome-related pediatric cataracts, given the risks related to secondary glaucoma versus deprivation amblyopia, in an infant born with both cataracts and vision-limiting posterior segment pathology.
Assuntos
Catarata/genética , Defeitos Congênitos da Glicosilação/genética , Fóvea Central/anormalidades , Mutação , Síndromes Miastênicas Congênitas/genética , N-Acetilglucosaminiltransferases/genética , Atrofia Óptica/genética , Epitélio Pigmentado da Retina/patologia , Atrofia , Catarata/diagnóstico , Extração de Catarata , Defeitos Congênitos da Glicosilação/diagnóstico , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Insuficiência de Múltiplos Órgãos/diagnóstico , Síndromes Miastênicas Congênitas/diagnóstico , Atrofia Óptica/diagnóstico , Sequenciamento do ExomaRESUMO
PURPOSE: To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors. MATERIALS: Retrospective case series. METHODS: We report four patients with retinal degeneration and intraretinal cystoid spaces due to CRB1 mutation. Of these patients, three were treated with topical carbonic anhydrase inhibitors. One of these three patients was changed to oral carbonic anhydrase inhibitor. Best corrected visual acuity and quantitative and qualitative macular optical coherence tomography results were recorded. RESULTS: Three patients were compound heterozygous for CRB1 mutations, and one had two mutations one of which was not found in the father. A total of seven different mutations were detected. All patients treated with carbonic anhydrase inhibitors experienced an improvement in visual acuity and decreased central retinal thickness, except in one eye in which retinal thickness paradoxically increased. CONCLUSIONS: CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.
Assuntos
Proteínas do Olho/genética , Edema Macular/genética , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , Distrofias Retinianas/genética , Acetazolamida/uso terapêutico , Adolescente , Inibidores da Anidrase Carbônica/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Edema Macular/tratamento farmacológico , Masculino , Linhagem , Reação em Cadeia da Polimerase , Distrofias Retinianas/tratamento farmacológico , Estudos Retrospectivos , Sulfonamidas/uso terapêutico , Tiofenos/uso terapêutico , Tomografia de Coerência Óptica , Acuidade VisualRESUMO
PURPOSE: To describe a novel point mutation in the initiation codon of the XLRS1 gene in a large family and the clinical features of males affected with X-linked juvenile retino-schisis. METHODS: Genealogic investigation and mutation screening of the XLRS1 gene were performed for a 4-generation family consisting of 72 members. Affected males were evaluated clinically between 1986 and 2004 with up to 18 years of follow-up. RESULTS: We identified a novel point mutation (1A>T transversion) in the initiation codon of the XLRS1 gene in affected males resulting in an amino acid substitution of methionine to leucine (Met1Leu), therefore abolishing the translation initiation Met codon. CONCLUSION: Identification of the disease-causing mutation in this family with long-term follow-up allows for earlier and more accurate identification of individuals at risk for this inherited progressive macular degeneration, provides for more accurate genetic counseling, and contributes to our understanding of the pathophysiology of this disorder.
