Long anterior lens zonules in late-onset retinal degeneration (L-ORD).
OBJECTIVE
We report new findings of peripupillary iris atrophy and long anteriorly-inserted zonules in a family with late-onset retinal degeneration (L-ORD).


METHODS
The proband was noted to have anterior segment findings not previously described in L-ORD, an autosomal dominant condition resulting in severe visual impairment. A mutation in the C1QTNF5 (CTRP5) gene is causal. We identified family members with anterior segment findings.


METHODS
Family members were examined with slit-lamp biomicroscopy and psychophysical tests including dark adaptation and visual fields. Genetic testing for the C1QTNF5 mutation was carried out.


RESULTS
In this family with a proven mutation in this gene, peripupillary iris atrophy and abnormally long anterior zonular insertions were present before retinal changes and visual loss.


CONCLUSIONS
Anterior segment findings have not previously been reported and along with impaired dark adaptation may serve as an early marker for this condition thus facilitating counseling and possible therapeutic intervention.
Subrayan
Visvaraja
V
Department of Ophthalmology, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh EH3 9HA, Scotland, UK.
Morris
Brid
B
Armbrecht
Ana Maria
AM
Wright
Alan F
AF
Dhillon
Baljean
B
D001284:Atrophy; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D003623:Dark Adaptation; D005260:Female; D006801:Humans; D007498:Iris / Q000473:pathology*; D007905:Lens Diseases / Q000175:diagnosis / Q000235:genetics*; D008022:Ligaments / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity; D014794:Visual Fields
C487851:C1QTNF5 protein, human; D003094:Collagen