Fundus Albipunctatus
Simulate fundus albipunctatus — a rare autosomal recessive stationary retinal dystrophy
characterised by the accumulation of abundant, discrete white or yellow-white dots scattered
across the mid-peripheral fundus at the level of the retinal pigment epithelium (RPE).
The condition arises from loss-of-function mutations in the RDH5 gene
(chromosome 12q13-q14), which encodes 11-cis retinol dehydrogenase — the enzyme
responsible for the final oxidation step of 11-cis retinol to 11-cis retinal within the
RPE visual cycle. Without functional RDH5, 11-cis retinal regeneration is severely delayed
following photobleaching, leaving rod (and sometimes cone) photopigments in a prolonged
bleached state that cannot be rapidly re-sensitised. This manifests clinically as marked
nyctalopia (night blindness), abnormally prolonged dark adaptation (requiring up to 3 hours
for rod threshold recovery versus 30–40 minutes in unaffected individuals), and the
characteristic white dot deposits believed to represent accumulations of 11-cis retinyl esters
and related visual cycle intermediates within RPE cells.
Unlike retinitis pigmentosa, fundus albipunctatus follows a predominantly stationary
course — daytime visual acuity, photopic colour vision, and visual fields are typically
preserved throughout life. A subset of patients, however, develops a superimposed
cone dystrophy variant with progressive central visual impairment.
Model three phenotypic states: classic stationary scotopic impairment, the prolonged
dark adaptation variant, and the rare progressive cone dystrophy form with central
involvement. Inspect ΔE colour shift, CIE xy chromaticity, and image-level scotopic
simulation. Advanced visual cycle, retinal dystrophy, and colour science research tool.
Fundus albipunctatus colour science simulation by Auric Artisan.