IntroductionThe glycoproteinoses comprise a group of rare and extremely rare lysosomal storage disorders. The ophthalmic manifestations of these disorders have been sparsely documented. A better understanding of these findings may help with the diagnosis of each disorder and may provide improved ophthalmic prognosis.MethodsTwenty-nine patients with glycoprotein storage disorders underwent ophthalmological examinations as part of a multi-specialty clinic at the Third International Conference for Glycoproteinoses. Three patients had a diagnosis of mucolipidosis II; 8, mucolipidosis III; 5, combined mucolipidosis II/III; 7, alpha-mannosidosis; 2, aspartylglucosaminuria; 2, fucosidosis; and 1, galactosialidosis. Near visual acuity, motility examination, slit lamp examination, dilated fundus examination, and cycloplegic refraction were recorded for each patient.ResultsAge range, was 3-41 years. Overall, near visual acuity was well preserved in all patients, with at least J3 acuity in the better eye. Hypermetropia of at least +5.00 spherical equivalent was found in 20 of 58 eyes. 21 of 29 patients had strabismus. 19 patients had at least trace corneal haze, though no patient had corneal clouding that obscured the anterior segment examination. Most patients had a normal posterior segment examination; however, 6 of 7 patients with alpha mannosidosis exhibited retinal vascular tortuosity.DiscussionRefractive error and strabismus are common findings in the glycoproteinoses. Corneal clouding is generally mild, and retinal and optic nerve findings are uncommon. Functional visual acuity is generally maintained.ConclusionsThese findings add to the sparse literature on ophthalmic findings in the glycoproteinoses. This series represents the largest collection to date on these disorders. IntroductionThe glycoproteinoses comprise a group of rare and extremely rare lysosomal storage disorders. The ophthalmic manifestations of these disorders have been sparsely documented. A better understanding of these findings may help with the diagnosis of each disorder and may provide improved ophthalmic prognosis. The glycoproteinoses comprise a group of rare and extremely rare lysosomal storage disorders. The ophthalmic manifestations of these disorders have been sparsely documented. A better understanding of these findings may help with the diagnosis of each disorder and may provide improved ophthalmic prognosis. MethodsTwenty-nine patients with glycoprotein storage disorders underwent ophthalmological examinations as part of a multi-specialty clinic at the Third International Conference for Glycoproteinoses. Three patients had a diagnosis of mucolipidosis II; 8, mucolipidosis III; 5, combined mucolipidosis II/III; 7, alpha-mannosidosis; 2, aspartylglucosaminuria; 2, fucosidosis; and 1, galactosialidosis. Near visual acuity, motility examination, slit lamp examination, dilated fundus examination, and cycloplegic refraction were recorded for each patient. Twenty-nine patients with glycoprotein storage disorders underwent ophthalmological examinations as part of a multi-specialty clinic at the Third International Conference for Glycoproteinoses. Three patients had a diagnosis of mucolipidosis II; 8, mucolipidosis III; 5, combined mucolipidosis II/III; 7, alpha-mannosidosis; 2, aspartylglucosaminuria; 2, fucosidosis; and 1, galactosialidosis. Near visual acuity, motility examination, slit lamp examination, dilated fundus examination, and cycloplegic refraction were recorded for each patient. ResultsAge range, was 3-41 years. Overall, near visual acuity was well preserved in all patients, with at least J3 acuity in the better eye. Hypermetropia of at least +5.00 spherical equivalent was found in 20 of 58 eyes. 21 of 29 patients had strabismus. 19 patients had at least trace corneal haze, though no patient had corneal clouding that obscured the anterior segment examination. Most patients had a normal posterior segment examination; however, 6 of 7 patients with alpha mannosidosis exhibited retinal vascular tortuosity. Age range, was 3-41 years. Overall, near visual acuity was well preserved in all patients, with at least J3 acuity in the better eye. Hypermetropia of at least +5.00 spherical equivalent was found in 20 of 58 eyes. 21 of 29 patients had strabismus. 19 patients had at least trace corneal haze, though no patient had corneal clouding that obscured the anterior segment examination. Most patients had a normal posterior segment examination; however, 6 of 7 patients with alpha mannosidosis exhibited retinal vascular tortuosity. DiscussionRefractive error and strabismus are common findings in the glycoproteinoses. Corneal clouding is generally mild, and retinal and optic nerve findings are uncommon. Functional visual acuity is generally maintained. Refractive error and strabismus are common findings in the glycoproteinoses. Corneal clouding is generally mild, and retinal and optic nerve findings are uncommon. Functional visual acuity is generally maintained. ConclusionsThese findings add to the sparse literature on ophthalmic findings in the glycoproteinoses. This series represents the largest collection to date on these disorders. These findings add to the sparse literature on ophthalmic findings in the glycoproteinoses. This series represents the largest collection to date on these disorders.