The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
Mol Vis
; 23: 695-706, 2017.
Article
en En
| MEDLINE
| ID: mdl-29062221
ABSTRACT
PURPOSE:
To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F gene.METHODS:
The patients underwent a detailed ophthalmological evaluation and full-field electroretinography (ERG). Selective targeted capture and whole-exome next-generation sequencing (NGS) were used to find the disease-causing mutations.RESULTS:
Patient 1 presented at age 3 months with nystagmus, normal visual attention, and a normal fundus exam. ERG responses were severely decreased. Patient 2 presented with nystagmus, severe hyperopia, esotropia, and visual acuity of 20/360 oculus dexter (OD) and 20/270 oculus sinister (OS) at age 5 months. His fundus exam showed slightly increased pigmentation around the foveae. The scotopic ERG responses were severely decreased and photopic responses mildly decreased. Based on the initial presentation, both patients received the clinical diagnosis of Leber congenital amaurosis (LCA). However, genetic testing showed no mutations in known LCA genes. Instead, broader genetic testing using NGS showed point mutations in the CACNA1F gene, which is reported to be associated with type 2 congenital stationary night blindness (CSNB2).CONCLUSIONS:
These two cases demonstrate the clinical overlap between LCA and CSNB in infants and young children. Genetic testing is an essential tool in these cases and provides a more accurate diagnosis and prognosis for patients with inherited retinal degenerative disorders.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades Hereditarias del Ojo
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Ceguera Nocturna
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Mutación Puntual
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Canales de Calcio Tipo L
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Enfermedades Genéticas Ligadas al Cromosoma X
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Errores Diagnósticos
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Amaurosis Congénita de Leber
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Miopía
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
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Infant
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Male
Idioma:
En
Año:
2017
Tipo del documento:
Article