This 19 year old man experienced periodic high fever as a child. He had no difficulties with his vision until age 19 when some abnormal pigmentation was incidentally discovered or routine fundus examination.
Color Vision: | Correctly identified 11/14 Ishihara pseudoisochromatic plates with the right eye and 12/14 with the left eye. |
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Refraction OD: | -3.75 +0.75 x 145 |
Refraction OS: | -3.00 +0.75 x 40 |
The clinical features favoring the diagnosis of retinitis pigmentosa with anisocytosis include: childhood onset periodic fever; mild anemia; anisocytosis on peripheral blood smear; night blindness and constricted visual fields as his earliest visual symptoms; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT; and, normally sighted parents.
Age at visit: 19 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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Retinitis Pigmentosa with Anemia | TRNT1 | Thr42 del3acAGA | Lys416 del1tggA | AR |