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Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature.

Hsu CL, Layton CJ - Case Rep Ophthalmol (2015)

Bottom Line: Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities.Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease.We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmology Unit, Greenslopes Private Hospital, Brisbane, Qld., Australia.

ABSTRACT
Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.

No MeSH data available.


Related in: MedlinePlus

a Radial OCT picture of the abnormal ODP in case 1. b Radial OCT picture of the abnormal left optic disc in case 2.
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Figure 2: a Radial OCT picture of the abnormal ODP in case 1. b Radial OCT picture of the abnormal left optic disc in case 2.

Mentions: On ocular examination, her Snellen visual acuities were 6/6 in the right eye and 6/5 in the left eye. Optic nerve functions were normal, evident by good pupillary light responses, no relative afferent pupillary defect and full colour vision on Isihara plate testing. Slit-lamp examination revealed non-visually significant nuclear sclerosis and open anterior chamber angles. Goldmann applanation tonometry revealed normal intraocular pressures of 16 mm Hg bilaterally. Dilated fundus examination showed a normal right optic disc and fundus and a larger, congenitally abnormal left optic disc (fig. 2) with associated inferior thinning of the retinal nerve fibre layer and peripapillary subretinal blood suggestive of a peripapillary choroidal neovascular membrane.


Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature.

Hsu CL, Layton CJ - Case Rep Ophthalmol (2015)

a Radial OCT picture of the abnormal ODP in case 1. b Radial OCT picture of the abnormal left optic disc in case 2.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4553917&req=5

Figure 2: a Radial OCT picture of the abnormal ODP in case 1. b Radial OCT picture of the abnormal left optic disc in case 2.
Mentions: On ocular examination, her Snellen visual acuities were 6/6 in the right eye and 6/5 in the left eye. Optic nerve functions were normal, evident by good pupillary light responses, no relative afferent pupillary defect and full colour vision on Isihara plate testing. Slit-lamp examination revealed non-visually significant nuclear sclerosis and open anterior chamber angles. Goldmann applanation tonometry revealed normal intraocular pressures of 16 mm Hg bilaterally. Dilated fundus examination showed a normal right optic disc and fundus and a larger, congenitally abnormal left optic disc (fig. 2) with associated inferior thinning of the retinal nerve fibre layer and peripapillary subretinal blood suggestive of a peripapillary choroidal neovascular membrane.

Bottom Line: Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities.Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease.We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmology Unit, Greenslopes Private Hospital, Brisbane, Qld., Australia.

ABSTRACT
Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.

No MeSH data available.


Related in: MedlinePlus