Maumenee I H

Collins M L, Traboulsi E I, Maumenee I H

This study found optic nerve head swelling often precedes optic atrophy in mucopolysaccharidoses (MPS), highlighting the need for early monitoring to preserve vision in these patients.

Iwamoto M, Nawa Y, Maumenee I H, Young-Ramsaran J, Matalon R, Green W R

Morquio syndrome (MPS IVA) eyes showed mucopolysaccharide deposits primarily in the cornea and trabecular meshwork, explaining corneal clouding and potential glaucoma risk from outflow obstruction.

Traboulsi E I, Maumenee I H

Childhood X-linked ALD causes progressive visual loss, mainly from CNS demyelination, but retinal degeneration may also occur. Consider ALD in boys with unexplained visual loss, dementia, and adrenal dysfunction.

Cohen S M, Green W R, de la Cruz Z C, Brown F R, Moser H W, Luckenbach M W et al.

Ocular studies in adrenoleukodystrophy patients revealed characteristic fat deposits in optic nerve and retina, causing ganglion cell loss and retinitis pigmentosa-like changes, highlighting direct ocular involvement in this neurodegenerative disease.

Robin A L, Quigley H A, Pollack I P, Maumenee A E, Maumenee I H

Childhood glaucoma causes arcuate and nasal visual field loss, similar to adults, with vertical optic nerve damage. Disk cupping in children can result from neural loss, scleral canal enlargement, or both.

Elsas F J, Maumenee I H, Kenyon K R, Yoder F

This study found a family with aniridia exhibiting surprisingly good vision and low glaucoma rates, suggesting iris absence alone doesn't dictate severe visual impairment, offering hope for some patients.