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      A case of superior segmental optic hypoplasia accompanied by a glaucomatous optic neuropathy

      case-report
      ,
      Clinical ophthalmology (Auckland, N.Z.)
      Dove Medical Press
      retinal nerve fiber layer

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          Abstract

          This is the first case report of a bilateral superior segmental optic hypoplasia (SSOH) accompanied by a glaucomatous optic neuropathy (GON). A 47-year-old man incidentally diagnosed as having bilateral SSOH, simultaneously disclosed glaucomatous optic disc appearances, including enlargements of the cup of the optic nerve heads and a thinning of the infero-temporal neuroretinal rim with laminar dot sign accompanied by a retinal nerve fiber layer (RNFL) local defect of infero-temporal region in the right eye. The visual field examination revealed that the corresponding nasal step, arcuate scotoma and RNFLfield defects in the right eye.

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          Most cited references12

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          Clinical evaluation of nerve fiber layer atrophy as an indicator of glaucomatous optic nerve damage.

          To evaluate the usefulness of the retinal nerve fiber layer (NFL) appearance in the estimation of glaucomatous optic nerve damage, we examined 335 eyes of normal, glaucoma suspect, of glaucomatous patients. In eyes with field loss, 84% had NFL atrophy. In normal eyes, NFL atrophy was suspected in 3%. In glaucoma suspects, 13% of eyes had NFL defects. Defects in glaucoma suspect eyes were more often localized, compared with the diffuse atrophy found in eyes with visual field loss. The NFL abnormalities were seen in areas of the retina corresponding to the location of visual field defects with a high accuracy. The NFL examination is as sensitive in detecting eyes with field loss as the optic disc configuration and may help to identify which eyes are suffering optic nerve damage prior to field loss.
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            Topless optic disks in children of mothers with type I diabetes mellitus.

            To determine the prevalence of and risk factors for superior segmental optic nerve hypoplasia in offspring of mothers with type I diabetes mellitus. Thirty-four subjects aged between 4 and 37 years, the children of 23 mothers who had type I diabetes mellitus at the time of pregnancy, aged between 4 and 37 years, were recruited from one institution and prospectively examined in search of an optic disk-related anomaly. Of the 34 subjects, three females (8.8%) showed classic ophthalmoscopic and perimetric features of superior segmental optic nerve hypoplasia, bilateral in two patients and unilateral in one. Pregnancies leading to affected children showed a tendency to be shorter, birth weight to be lower, and control of maternal diabetes mellitus to be poorer compared with pregnancies resulting in unaffected children. No variable unique to the affected subjects as opposed to the unaffected majority could be identified. We found a superior segmental optic nerve hypoplasia, described as a "topless disk," in three of 34 subjects (8.8%) at risk for this condition. Topless disk thus seems to be more common than was previously thought, possibly having been missed because of its subtle signs and only mild impairment of visual performance in affected individuals. Female sex, short gestation time, low birth weight, and poor maternal diabetes control may represent additional risk factors for the development of a topless disk. Its pathogenesis remains obscure, but the responsible pathogenic event may occur in the perinatal period.
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              Superior segmental optic hypoplasia found in Tajimi Eye Health Care Project participants.

              To investigate the prevalence and characteristics of superior segmental optic hypoplasia in Japanese. We studied 14 779 subjects, aged 40 years or older, who underwent IMAGEnet fundus photography as part of a large-scale eye disease screening project conducted in Tajimi, Japan. A single researcher reviewed all of the photographs for the presence of ocular abnormality in the optic nerve head and retina, paying special attention to the presence of superior segmental optic hypoplasia. Fundus photographs of 14 431 cases (28,396 eyes) were successfully reviewed. We found superior segmental optic hypoplasia in 37 cases (54 eyes; 0.3% of the cases and 0.2% of the eyes). Of the 37 cases, 23 (62%) showed the corresponding visual field defect in at least one eye. The prevalence of superior segmental optic hypoplasia is about 0.3% in the Japanese population.
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                Author and article information

                Journal
                Clin Ophthalmol
                Clinical Ophthalmology
                Clinical ophthalmology (Auckland, N.Z.)
                Dove Medical Press
                1177-5467
                1177-5483
                June 2008
                : 2
                : 2
                : 475-478
                Affiliations
                Department of Ophthalmology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, Japan
                Author notes
                Correspondence: Hiroshi Ohguro, Department of Ophthalmology, Sapporo Medical University School of Medicine, South-1 West-16, Chuo-ku, Sapporo, Hokkaido, Japan, 060-8543, Tel +81 11 611 2111, Fax +81 11 613 6575, Email ooguro@ 123456sapmed.ac.jp
                Article
                co-2-475
                2693987
                19668741
                ba2fff61-5211-45cd-8bc8-3a546b3ad8c0
                © 2008 Ohguro et al, publisher and licensee Dove Medical Press Ltd. This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.
                History
                Categories
                Case Report

                Ophthalmology & Optometry
                retinal nerve fiber layer
                Ophthalmology & Optometry
                retinal nerve fiber layer

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