Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.
Ophthalmic Genet
; 41(1): 73-78, 2020 02.
Article
in En
| MEDLINE
| ID: mdl-32124677
ABSTRACT
Background:
We present a longitudinal clinical characterization of PYGM-linked pattern dystrophy in an adult male patient.Materials andMethods:
A patient affected by McArdle disease (glycogen storage disease type V) and homozygous for the nonsense variant PYGM c.148C>T p.(Arg50*) underwent ophthalmic examinations over a 9-year-interval, including fundus photography, fundus autofluorescence, optical coherence tomography (OCT), OCT-angiography and electroretinography (ERG).Results:
At age 52, the patient was asymptomatic but yellow flecks were first observed in the macula of both eyes. This yellow flecks at the posterior pole progressed towards a pattern-like dystrophy over a 5-year-period. By fundus autofluorescence imaging the appearance of new hyperautofluorescent flecks and the extension of existing ones was observed over time. Concomitantly, a slow progression of the size of atrophic areas was seen at the posterior pole. Scotopic ERGs were within normal limits, but photopic Flicker responses were decreased, indicating reduced cone function.Conclusions:
This additional case of PYGM-linked pattern dystrophy further confirms retinopathy as a clinical phenotype associated with McArdle disease. PYGM expression pattern suggests a disease mechanism involving impaired glycogen metabolism both in the retinal pigment epithelium and in cone photoreceptors.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinal Diseases
/
Fluorescein Angiography
/
Glycogen Storage Disease Type V
/
Tomography, Optical Coherence
/
Electroretinography
Type of study:
Observational_studies
/
Risk_factors_studies
Limits:
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Ophthalmic Genet
Journal subject:
GENETICA MEDICA
/
OFTALMOLOGIA
Year:
2020
Document type:
Article
Affiliation country:
Suiza