Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration.
OBJECTIVE
This study describes, in detail, the phenotype of late-onset retinal macular degeneration (L-ORMD) an inherited condition affecting both the retina and anterior segment. A staging based on clinical characteristics is proposed, and the relevance of this condition to current understanding of age-related macular degeneration is discussed.


METHODS
A systematic review of the literature regarding this condition supports a detailed description of the natural history. Clinical experiences in identifying, monitoring and managing patients are also presented.


RESULTS
L-ORMD is a rare fully penetrant autosomal dominant condition resulting from a mutation in the C1QTNF5 gene on chromosome 11. Affected individuals develop bilateral loss of vision, dark-adaptation abnormalities, fundus drusen-like yellow spots, midperipheral pigmentation, choroidal neovascularisation, chorioretinal atrophy and long anteriorly inserted lens zonules. Patients may benefit from treatment with high-dose vitamin A.


CONCLUSIONS
Raised awareness of L-ORMD should lead to earlier diagnosis and improved care for patients. New antivascular endothelial growth factor treatment may provide a new possibility for management. A deeper insight into molecular and genetic mechanisms of L-ORMD may suggest avenues to explore new treatments of this disorder.
Borooah
S
S
Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh EH3 9HA, UK. shyamanga@aol.com
Collins
C
C
Wright
A
A
Dhillon
B
B
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003094:Collagen / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012160:Retina / Q000473:pathology*; D014801:Vitamin A / Q000627:therapeutic use; D014815:Vitamins / Q000627:therapeutic use
D014815:Vitamins; D014801:Vitamin A; D003094:Collagen