Cystic fibrosis syndrome (fibrocystic disease of pancreas) 339

General: Autosomal recessive; Caucasians; lungs, pancreas, and salivary glands are mainly involved.

Ocular: Ischemic retinopathy caused by carbon dioxide retention and chronic respiratory insufficiency; vein congestion and capillary dilation around the optic nerve; retinal hemorrhages; macular degeneration; papilledema; optic atrophy; xerosis of conjunctiva; optic neuritis; abnormal pupillary responses; decreased contrast sensitivity.

Clinical: Failure to gain weight properly; recurrent pulmonary infections; salty skin; pancreatic insufficiency with malabsorption; abdominal cramps; diarrhea; increased appetite; dyspnea; chronic cough; production of viscous tenacious sputum; fever; retarded growth; delayed puberty; distended abdomen; hyperresonant chest; depressed diaphragm; clubbing of fingers.

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Spaide RF, et al. Ocular findings in cystic fibrosis. Am J Ophthalmol 1987; 103:204-210.