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September 1979, Vol 133, No. 9 >
Article | September 1979

Visual Loss in Osteopetrosis FREE

Creig S. Hoyt, MD; Frank A. Billson, FRCS, FRACS, MACO
[+] Author Affiliations

Reprint requests to Pediatric Ophthalmology, University of California Medical Center, Room 490-U, 505 Parnassus Ave, San Francisco, CA 94143 (Dr Hoyt).


Arch Pediatr Adolesc Med. 1979;133(9):955-958. doi:10.1001/archpedi.1979.02130090083017
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References
Comments

• We present the clinical and electrophysiological findings in three cases of osteopetrosis with visual loss. In all cases the findings on electroretinography suggested diffuse retinal degeneration, despite normal ophthalmoscopic appearance of the retinas. We suggest that retinal degeneration may be a common finding in osteopetrosis and a major cause of visual loss. Patients with osteopetrosis and poor vision should be examined using electrophysiological techniques to detect unsuspected retinal dysfunction.

(Am J Dis Child 133:955-958, 1979)

REFERENCES

1 +
Albers-Schönberg H:  Rottengilder einer seltenen Knochener Krankung . Munch Med Wochenschr 51:365-368, 1904;.
2 +
Krashner RG:  Osteopetrosis . Am J Roentgenol 16:405-410, 1926;.
3 +
Enell H, Pehrson M:  Studies on osteopetrosis: Clinical report of three cases with genetic considerations . Acta Pediatr 47:279-287, 1958;.
4 +
Brown DM, Dent PB:  Pathogenesis of osteopetrosis: A comparison of human and animal spectra . Pediatr Res 5:181-191, 1971;.
5 +
Dent CE, Smellie JM, Watson L:  Studies in osteopetrosis . Arch Dis Child 40:7-15, 1965;.
6 +
Hinkel CL, Beiler DD:  Osteopetrosis in adults . Am J Roentgenol 74:46-64, 1955;.
7 +
Johnston CC, Lavy N, Lord T, et al:  Osteopetrosis: A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form . Medicine 47:149-167, 1968;.
8 +
Riser RO:  Marble bones and optic atrophy . Am J Ophthalmol 24:874-878, 1941;.
9 +
Consul BN, Kulshresthra OP, Sethi PK:  Osteopetrosis . Am J Ophthalmol 58:686-690, 1964;.
10 +
Ellis PO, Jackson WE:  Osteopetrosis: A clinical evaluation of optic nerve involvement . Am J Ophthalmol 53:943-953, 1962;.
11 +
Pease MC,DeSanctis AG, Alter NM:  Albers-Schoenberg's Disease . Arch Pathol Lab Med 11:509-513, 1931;.
12 +
McCune DJ, Bradley C:  Osteopetrosis (marble bones) in an infant . Am J Dis Child 48:949-991, 1934;.
13 +
Nussey AM:  Osteopetrosis . Arch Dis Child 13:161-172, 1938;.
14 +
Anthony BS, Pollack HC:  Marble bones with pathological fracture and bilateral optic atrophy in a negro child . Radiology 38:355-359, 1942;.
15 +
Pietruschka G:  Weitere Mitteilungen über die Marmor-knocken Krankheit (Albers-Schönbergsche Krankheit) nebst Bemerkungen zur differential Diagnose . Klin Mbl Augenheilkd 132:509-525, 1958;.
16 +
Klinworth G-K:  The neurologic manifestations of osteopetrosis (Albers-Schönberg's Disease) . Neurology 13:512-519, 1963;.
17 +
Yrabec F, Sedlachova J:  Neuro-histological findings in osteopetrosis. (Albers-Schönberg Disease) . Br J Ophthalmol 48:218-222, 1964;.
18 +
Hasenhuttl K:  Osteopetrosis: Review of the literature and comparative studies on a case with a twenty-four year follow-up . J Bone Joint Surg 44:359-370, 1962;.
19 +
Van Waardenburg PJ:  Different types of hereditary optic atrophy . Acta Genet Med Gemellol 7:287-290, 1957;.
20 +
Keith CG:  Retinal atrophy in osteopetrosis . Arch Ophthalmol 79:234-241, 1968;.
21 +
Montgomery RD, Standard KL:  Albers-Schönberg's Disease: A changing concept . J Bone Joint Surg 42:303-312, 1960;.
22 +
Baird PA, Robinson GC, Hardwick DF, et al:  Congenital osteopetrosis: An unusual cause of hydrocephalus . Can Med Assoc J 98:362-365, 1968;.
23 +
Poser CM:  Dysmyelination revisited . Arch Neurol 35:401-408, 1978;.
24 +
Dymshits LA:  (Disorder of the eye in marble disease [Albers-Schönberg Disease]) (Rus) . Vestn Oftalmol 2:52-55, 1962;.
25 +
Ikeda H, Tremain KE, Sanders MD:  Neurophysiological investigation in optic nerve disease: Combined assessment of the visually evoked response and electroretinogram . Br J Ophthalmol 62:227-239, 1978;.
26 +
Noble KG, Carr RE:  Leber's congenital amaurosis . Arch Ophthalmol 96:818-821, 1978;.
27 +
Francois J:  Leber's congenital tapetoretinal degeneration . Int Ophthalmol Clin 8:929-947, 1968;.
28 +
Alstrom CH, Olson OA:  Heredo retinopathia congenitalis monohybrida recessiva autosomalis . Hereditas 43:1-177, 1957;
29 +
Marmor MF:  Corneal electroretinograms in children without sedation . J Pediatr Ophthalmol 13:112-114, 1976;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

1 +
Albers-Schönberg H:  Rottengilder einer seltenen Knochener Krankung . Munch Med Wochenschr 51:365-368, 1904;.
2 +
Krashner RG:  Osteopetrosis . Am J Roentgenol 16:405-410, 1926;.
3 +
Enell H, Pehrson M:  Studies on osteopetrosis: Clinical report of three cases with genetic considerations . Acta Pediatr 47:279-287, 1958;.
4 +
Brown DM, Dent PB:  Pathogenesis of osteopetrosis: A comparison of human and animal spectra . Pediatr Res 5:181-191, 1971;.
5 +
Dent CE, Smellie JM, Watson L:  Studies in osteopetrosis . Arch Dis Child 40:7-15, 1965;.
6 +
Hinkel CL, Beiler DD:  Osteopetrosis in adults . Am J Roentgenol 74:46-64, 1955;.
7 +
Johnston CC, Lavy N, Lord T, et al:  Osteopetrosis: A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form . Medicine 47:149-167, 1968;.
8 +
Riser RO:  Marble bones and optic atrophy . Am J Ophthalmol 24:874-878, 1941;.
9 +
Consul BN, Kulshresthra OP, Sethi PK:  Osteopetrosis . Am J Ophthalmol 58:686-690, 1964;.
10 +
Ellis PO, Jackson WE:  Osteopetrosis: A clinical evaluation of optic nerve involvement . Am J Ophthalmol 53:943-953, 1962;.
11 +
Pease MC,DeSanctis AG, Alter NM:  Albers-Schoenberg's Disease . Arch Pathol Lab Med 11:509-513, 1931;.
12 +
McCune DJ, Bradley C:  Osteopetrosis (marble bones) in an infant . Am J Dis Child 48:949-991, 1934;.
13 +
Nussey AM:  Osteopetrosis . Arch Dis Child 13:161-172, 1938;.
14 +
Anthony BS, Pollack HC:  Marble bones with pathological fracture and bilateral optic atrophy in a negro child . Radiology 38:355-359, 1942;.
15 +
Pietruschka G:  Weitere Mitteilungen über die Marmor-knocken Krankheit (Albers-Schönbergsche Krankheit) nebst Bemerkungen zur differential Diagnose . Klin Mbl Augenheilkd 132:509-525, 1958;.
16 +
Klinworth G-K:  The neurologic manifestations of osteopetrosis (Albers-Schönberg's Disease) . Neurology 13:512-519, 1963;.
17 +
Yrabec F, Sedlachova J:  Neuro-histological findings in osteopetrosis. (Albers-Schönberg Disease) . Br J Ophthalmol 48:218-222, 1964;.
18 +
Hasenhuttl K:  Osteopetrosis: Review of the literature and comparative studies on a case with a twenty-four year follow-up . J Bone Joint Surg 44:359-370, 1962;.
19 +
Van Waardenburg PJ:  Different types of hereditary optic atrophy . Acta Genet Med Gemellol 7:287-290, 1957;.
20 +
Keith CG:  Retinal atrophy in osteopetrosis . Arch Ophthalmol 79:234-241, 1968;.
21 +
Montgomery RD, Standard KL:  Albers-Schönberg's Disease: A changing concept . J Bone Joint Surg 42:303-312, 1960;.
22 +
Baird PA, Robinson GC, Hardwick DF, et al:  Congenital osteopetrosis: An unusual cause of hydrocephalus . Can Med Assoc J 98:362-365, 1968;.
23 +
Poser CM:  Dysmyelination revisited . Arch Neurol 35:401-408, 1978;.
24 +
Dymshits LA:  (Disorder of the eye in marble disease [Albers-Schönberg Disease]) (Rus) . Vestn Oftalmol 2:52-55, 1962;.
25 +
Ikeda H, Tremain KE, Sanders MD:  Neurophysiological investigation in optic nerve disease: Combined assessment of the visually evoked response and electroretinogram . Br J Ophthalmol 62:227-239, 1978;.
26 +
Noble KG, Carr RE:  Leber's congenital amaurosis . Arch Ophthalmol 96:818-821, 1978;.
27 +
Francois J:  Leber's congenital tapetoretinal degeneration . Int Ophthalmol Clin 8:929-947, 1968;.
28 +
Alstrom CH, Olson OA:  Heredo retinopathia congenitalis monohybrida recessiva autosomalis . Hereditas 43:1-177, 1957;
29 +
Marmor MF:  Corneal electroretinograms in children without sedation . J Pediatr Ophthalmol 13:112-114, 1976;.

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