Cone dysfunction syndrome (achromatopsia)  273

General: Male-linked recessive inheritance; condition is stagnant and nonprogressive; all modes of inheritance have been reported as well as many sporadic cases.

Ocular: Nystagmus; vision decreased 20/50 to or less with no or reduced color vision; color vision might be affected with or without amblyopia; peripheral field loss if rods and cones are involved; photophobia; general fundus lesions, mainly macular involvement with depigmentation and degenerative changes; decreased central vision; difficulty adjusting from light to dark environment.

Clinical: Head movements.

Boger WP, Petersen RA. Achromatopsia. In: Pavan-Langston D, ed. Manual of Ocular Diagnosis and Therapy, 4th ed. Boston: Little, Brown and Company, 1995:283.

Goodman G, et al. Cone dysfunction syndromes. Arch Ophthalmol 1963; 70:214.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

O'Connor PS, Tredici TJ, Ivan DJ, et al. Achromatopsia. Clinical diagnosis and treatment. J Clin Neuro-Ophthalmol 1982; 2:219-226.

Reichel E. Hereditary cone dysfunction. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. II. Philadelphia: WB Saunders, 1994:1238-l248.

Schiefer U, Kurtenbach A, Braun E, et al. Centrally tinted contact lenses. A useful visual aid for patients with achromatopsia. Ger J Ophthalmol 1995; 4:52-56.

Zweifach PH, Wolf E. Acquired cone dysfunction and other photopic system diseases. Arch Ophthalmol 1968; 79: 18.