WHY CAN'T MY CHILDREN SEE? -- A CASE OF SIBLING PAIR CONE-ROD DYSTROPHY

Title WHY CAN'T MY CHILDREN SEE? -- A CASE OF SIBLING PAIR CONE-ROD DYSTROPHY
Author, Co-Author Muriel Ferreira
Topic
Year
2013
Day
Program Number
R02013046
Room
Room 6C
Affiliation
Abstract BACKGROUND:
Cone-rod (CR) dystrophy is a rare hereditary disease with poor visual prognosis. Typically the inheritance pattern is recessive with cone loss preceeding rod loss.This is a case of a sibling pair diagnosed with cone-rod dystrophy.

CASE REPORT(S):
Case History: healthy Hispanic 7yo male and 9yo female.
Chief complaint: Referred for unexplained decrease in visual acuities and binocular vision evaluation due to eccentric viewing.
Ocular and medical history: Unremarkable.
Medications: No medications.
Family history: No visual impairment.
Aided distance visual acuities: 20/200 OD, 20/200 OS, with eccentric viewing.
Aided near visual acuities: 20/100 OD, 20/70 OS.
Color Vision: Strong red-green defect on male. Mild red-green defect on female.
Pupils, confrontation fields, and external ocular health were normal OD, OS.
Internal Ocular health: Bilateral macular pigmentary changes.
Laboratory studies:
Full-field electroretinograph (ERG): Severely reduced cone and rod response (Cone>Rod).
Optical coherence tomography (OCT): disruption and missing macular photoreceptor layers OD, OS.
Differential diagnosis:
Primary/leading: Visual impairment due to CR dystrophy.
Others: Stargardts, Lebers congential amaurosis, Cone dystrophy, Retinitis pigmentosa, Blue cone monochromatism.

CONCLUSIONS:
Patients with CR dystrophy usually present with the chief complaint of reduced vision, color vision disturbance, decrease central vision followed by peripheral vision loss, and night blindness.
Currently there is no treatment or therapy for CR dystrophy. Management includes monitoring disease progression with macular OCT and ERGs. In addition,managment includes school accommodations, services such as a teacher for the visually impaired, low vision evaluation to assess electronic low vision devices, and genetic testing and counseling. Future management may include mobiilty training.
Affiliation of Co-Authors
Outline