Asociación de albinismo oculocutáneo y distrofia granular en una familia / Familiar case of granular dystrophy and oculocutaneous albinism
Arch. Soc. Esp. Oftalmol
; 81(5): 289-292, mayo 2006. ilus
Article
in Es
| IBECS
| ID: ibc-046759
Responsible library:
ES1.1
Localization: ES1.1 - BNCS
RESUMEN
Caso clínico Paciente femenino de 35 años deedad con mala agudeza visual desde la infancia. Ala exploración se encontró baja agudeza visual, nistagmo,hipopigmentación de piel y cabello amarillento,córnea con depósitos blanquecinos en estromacentral y anterior, transiluminación de iris ehipoplasia foveal. Se diagnosticaron albinismo oculocutáneoy distrofia corneal granular. Se encontróalbinismo oculocutáneo en dos hermanos y distrofiagranular en tres hermanos, la madre y el hijo.Discusión:
La distrofia corneal granular se transmitegenéticamente siguiendo un patrón autosómicodominante e independiente del albinismo oculocutáneo.Este es el primer caso publicado de presentaciónconcomitante de ambas entidadesABSTRACT
Clinical case A 35-year-old female patient with ;;blurred vision since childhood, for which no treatment ;;had been given, presented with poor visual ;;acuity. She had white skin and fair yellow hair. There ;;were several well circumscribed deposits in the ;;central and anterior corneal stroma, and iris transillumination ;;and foveal hypoplasia were evident. ;;The clinical diagnosis was oculo-cutaneous albinism ;;and granular corneal dystrophy. We found oculo- ;;cutaneous albinism in two brothers and granular ;;dystrophy in three brothers, the mother and a son. ;;Discussion:
Corneal dystrophy is an autosomal ;;dominant disorder inherited independently of oculocutaneous ;;albinism, which is inherited as an autosomal ;;recessive condition. This is the first case ;;report of granular dystrophy concurrent with oculocutaneous ;;albinism
Full text:
Available
Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Corneal Dystrophies, Hereditary
/
Albinism, Oculocutaneous
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
Language:
Spanish
Journal:
Arch. Soc. Esp. Oftalmol
Year:
2006
Document type:
Article
Institution/Affiliation country:
Hospital Dr. Luis Sánchez Bulnes/México