Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.
J AAPOS
; 28(3): 103925, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38697387
ABSTRACT
BACKGROUND:
NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder, polyneuropathy, and hypo- or alacrima. We characterized the full spectrum and evolution of the ocular phenotype in a prospective natural history of NGLY1 deficiency.METHODS:
We collected ophthalmological data on 29 individuals with NGLY1 deficiency in a natural history study. Medical records were reviewed to confirm caregiver-reported symptoms. Of the 29, 15 participants appeared for at least one ophthalmological examination.RESULTS:
Caregivers reported at least one ocular sign or symptom in 90% of participants (26/29), most commonly decreased tears, refractive error, and chronic infection. Daily eye medication, including artificial tears, ophthalmic ointment, and topical antibiotics were used by 62%. Ophthalmological examination confirmed refractive errors in 93% (14/15) and corneal abnormalities in 73% (11/15).CONCLUSIONS:
Given nearly universal hypolacrima and additional prominent ocular findings in NGLY1 deficiency, a targeted ocular history and ophthalmologic examination may facilitate prompt diagnosis and early initiation of preventive eye care, preserving vision and overall ocular health.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Errores de Refracción
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
J AAPOS
Asunto de la revista:
OFTALMOLOGIA
/
PEDIATRIA
Año:
2024
Tipo del documento:
Article