[A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation].

Abstract

Oliver-McFarlane syndrome is a rare genetic disorder characterized by long eyelashes, choroidoretinal atrophy, and multiple pituitary hormone deficiencies. The patient in this case is a 29-year-old female who has suffered from night blindness, low vision, and long eyelashes since childhood. Through genetic sequencing, she was diagnosed with compound heterozygous variaton in the PNPLA6 gene, indicating Oliver-McFarlane syndrome based on her comprehensive clinical presentation.

• Authors: J Shi, X Zhang, K Xu, Y Xie, X H Zhang, Y Li
• Journal: [Zhonghua yan ke za zhi] Chinese journal of ophthalmology (Zhonghua Yan Ke Za Zhi) Vol. 59 Issue 6 Pg. 484-487 (Jun 11 2023) ISSN: 0412-4081 [Print] China
• PMID: 37264580 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• PNPLA6 protein, human
• Acyltransferases
• Phospholipases

Topics

• Humans
• Female
• Child
• Adult
• Retinitis Pigmentosa (diagnosis, genetics)
• Intellectual Disability (diagnosis, genetics)
• Hypertrichosis (diagnosis, genetics)
• Mutation
• Acyltransferases (genetics)
• Phospholipases (genetics)