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rhegmatogenous retinal detachment autosomal dominant
Pathology:
- most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina
Genetics:
- autosomal dominant
- associated with defects in COL2A1
Clinical manifestations:
- pathologic myopia
Special laboratory:
- ophthalmoscopy
* image [2]
Complications:
- in most cases leads to visual impairment or blindness if untreated
General
retinal pigment epithelium detachment (retinal detachment)
genetic disease of the eye
Database Correlations
OMIM 609508
References
- OMIM :accession 609508
- Gasparian SA, Almeida DRP, Chin EK.
Combined Retinoschisis and Rhegmatogenous Retinal Detachment With a Very Large
Outer Retinal Hole.
JAMA Ophthalmol. 2022;140(10):e223586
PMID: 36264291
https://jamanetwork.com/journals/jamaophthalmology/fullarticle/2797757