Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in < em > PEX1 < /em >

CONCLUSION: Heimler syndrome is caused by compound heterozygous PEX1 pathogenic variants, c.2966T > C (p.I989 T) and c.1671_1672del (p.G558Sfs*33), which contributed to the diversity of clinical and genetic profiles in this patient. The main clinical manifestations include bilateral retinitis pigmentosa with cystoid macular edema, sensorineural hearing loss, and enamel hypoplasia. Systemic examinations are suggested for patients suspected of having pigmentary retinal dystrophy, especially combined with hearing-related impairments. Genetic testing can help us to make a definitive diagnosis.PMID:38488462 | DOI:10.1177/11206721241240511
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research