Clinical Genetics - General = Ocular Genetics (TRANSFERRED)

Question 1

Reference: Genetics residents in-training examination - March 2020 (Spring 2020)

Link each of the following syndromes associated with cataracts to its associated characteristic clinical feature and associated gene.

Feature: Conical teeth; Dental cysts; Glaucoma; Linear skin defects; Premature ageing; Retinitis pigmentosa

Gene: B3GLCT; ERCC6/ERCC8; HCCS; IKBKG; LMNA; OCRL;

Syndrome: Cockayne, Hutchinson-Gilford, Incontinentia Pigmenti, Lowe, MIDAS, Peters Plus (Krause-Kilvin)

Answer 1

Cockayne
Retinitis pigmentosa
ERCC6/ERCC8

Hutchinson-Gilford
Premature ageing
LMNA

Incontinentia pigmenti
Conical teeth
IKBKG

Lowe
Dental cysts
OCRL

MIDAS
Linear skin defects
HCCS

Peters Plus (Krause-Kilvin)
Glaucoma
B3GLCT

Question 2

Reference: Genetics residents in-training examination – Fall 2020

Name a syndrome/genetic condition associated with ectopia lentis in which the following is also a feature (you cannot re-use syndromes)

1. Short Stature and brachydactyly:
2. Thoracic aortic aneurysm:
3. Thrombotic disease:
4. Ataxia/developmental regression
5. Autosomal recessive inheritance

Answer 2

1. Weill-Marchesani
2. Marfan
3. Homocystinuria
4. Sulfite oxidase deficiency
5. ADAMTSL4-related isolated ectopia lentis