Electricians and those working in chemical laboratories are susceptible to opticatrophy.
2
An optic fundoscopy revealed a devastated retina and severe opticatrophy.
3
We describe a patient with seropositive rheumatoid arthritis who developed pachymeningitis resulting in opticatrophy.
4
Here, we describe a Moroccan girl of consanguineous parents with opticatrophy and cerebellar atrophy.
5
Other important differences from Friedreich's ataxia are absence of opticatrophy, diabetes mellitus, cardiomyopathy and severe skeletal deformity.
6
Complications of retinitis such as retinal detachment, uveitis and opticatrophy occurred in 39% of patients.
7
Mammalian mitochondrial inner membrane fusion is mediated by opticatrophy 1 (OPA1).
8
Xerophthalmia: Xerophthalmia and opticatrophy were seen occasionally and often left permanent damage to vision, and sometimes complete blindness.
9
PRVEP parameters may provide reliable evidence of visual pathway involvement in OPLGG, helping to hasten treatment before opticatrophy is detected.
10
This therapy also improved the electronic conductivity of the sciatic nerves, prevented opticatrophy, improved mobility, and restored mitochondrial complex function.
11
Phenotypes included smaller eyes and reduced hair cell numbers, consistent with the opticatrophy and hearing impairment observed in human patients.
12
CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed opticatrophy, cerebellar signs and areflexia.
13
After above symptoms ascertained, 1.40 grain euphthalmine inserted, and examination of eye grounds showed no opticatrophy.
14
Incredibly lucky methanol guzzlers might start to get their vision back within a week; unlucky ones face opticatrophy and total, permanent blindness.
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Our findings confirm the recent report of pathogenic SLC25A46 mutations as a novel cause for opticatrophy spectrum disorder.
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In addition, we compared the clinical features of patients with and without mutations in OPA1, the gene most commonly involved in dominantly inherited opticatrophy.