pigmentary retinopathy

Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible.

This is a rare multisystem disorder characterized by dwarfism, pigmentary retinopathy, impaired nervous system development, and facial abnormalities.

The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.

Eyes: Pigmentary retinopathy, poor visual acuity, low vision, and/or blindness caused by an impaired photoreceptor transport mechanism in the retina.

Pigmentary retinopathy KSS results in a pigmentation of the retina, primarily in the posterior fundus.

Kearns-Sayre syndrome, is characterized by onset before 15 years of age of CPEO, heart block and pigmentary retinopathy.

KSS involves a triad of the already described CPEO, as well as bilateral pigmentary retinopathy, and cardiac conduction abnormalities.

It is important to have a dilated eye exam to determine if there is pigmentary retinopathy that may signify Kearns-Sayre syndrome which is associated with cardiac abnormalities.

They also have extreme cutaneous photosensitivity (sensitivity to sunlight), neurodevelopmental abnormalities, deafness, and often exhibit lipoatrophy, atrophic skin, severe tooth decay, sparse hair, calcium deposits in neurons, cataracts, sensorineural hearing loss, pigmentary retinopathy, and bone abnormalities.