Retinoschisis associated with Kearns-Sayre syndrome.
Ophthalmic Genet
; 41(5): 497-500, 2020 10.
Article
em En
| MEDLINE
| ID: mdl-32787478
ABSTRACT
BACKGROUND:
Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS. MATERIALS ANDMETHODS:
Physical and complete ophthalmic examination, molecular diagnosis.RESULTS:
Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and heart block. At age 21 he was incidentally found to have retinoschisis on optical coherence tomography that remained stable over three years follow-up. Sequencing of the RS1 gene revealed no pathogenic variants, effectively ruling out co-existing X-linked retinoschisis.CONCLUSIONS:
These findings suggest retinoschisis may be a rare manifestation of KSS. A trial of a carbonic anhydrase inhibitor was frustrated by coexisting corneal edema associated with the condition.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Kearns-Sayre
/
Retinosquise
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article