Familial Nanophthalmos

Cross, Harold E.; Yoder, Freda

doi:10.1016/0002-9394(76)90244-0

Cited by 56 publications

(25 citation statements)

References 10 publications

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“…Human MFRP disease has larger, irregular patches that retain partial pigmentation. A more basic difference is the apparent absence of photoreceptor degeneration in our patients or in patients 17, 18, and 19, who, at ages 70, 76 and 78, respectively, had glaucoma and extensive hypopigmentation and no report of night blindness (11).…”

Section: Discussioncontrasting

confidence: 59%

“…In addition, three deceased relatives (Fig. 2, patients 17-19) had been described in a classic study of nanophthalmos by Cross and Yoder (11). Outwardly, affected eyes showed prominent forward bowing of the iris and a narrow angle between iris and cornea (Fig.…”

Section: Methodsmentioning

confidence: 88%

“…Although the NNO1 gene remains unknown, one candidate is VMD2, the Best's macular dystrophy gene, in which a small subset of splicing mutations cause syndromic vitreoretinopathy accompanied by nanophthalmos (10). Large families showing recessive or semidominant inheritance of nonsyndromic nanophthalmos are known (5,6,(11)(12)(13), but no loci have been reported. This article describes a locus for recessive nanophthalmos and its association with mutations in the MFRP gene.…”

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confidence: 99%

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Extreme hyperopia is the result of null mutations inMFRP, which encodes a Frizzled-related protein

Sundin

Leppert

Silva

et al. 2005

Proc. Natl. Acad. Sci. U.S.A.

161

131

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Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range of ؉8.00 to ؉25.00 diopters. Because the cornea and lens are normal in size and shape, hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. Thickening of these tissues is a general feature of axial hyperopia, whereas the opposite occurs in myopia. We have mapped recessive nanophthalmos to a unique locus at 11q23.3 and identified four independent mutations in MFRP, a gene that is selectively expressed in the eye and encodes a protein with homology to Tolloid proteases and the Wnt-binding domain of the Frizzled transmembrane receptors. This gene is not critical for retinal function, as patients entirely lacking MFRP can still have good refraction-corrected vision, produce clinically normal electroretinograms, and show only modest anomalies in the dark adaptation of photoreceptors. MFRP appears primarily devoted to regulating axial length of the eye. It remains to be determined whether natural variation in its activity plays a role in common refractive errors.eye ͉ genetics ͉ morphology ͉ nanophthalmos

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Section: Discussioncontrasting

confidence: 59%

Section: Methodsmentioning

confidence: 88%

mentioning

confidence: 99%

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Extreme hyperopia is the result of null mutations inMFRP, which encodes a Frizzled-related protein

Sundin

Leppert

Silva

et al. 2005

Proc. Natl. Acad. Sci. U.S.A.

161

131

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“…Nanophthalmos is derived from the Greek word nano, meaning dwarf, and nanophthalmic eyes typically present very high to extreme axial hyperopia without other obvious structural defects (O'Grady RB, 1971;Cross & Yoder, 1976). Warburg (1981Warburg ( , 1993 defined nanophthalmos or pure microphthalmos as a developmental arrest of ocular growth not associated with other ocular malformations.…”

Section: Contact Lenses For Visual Rehabilitation In Bilateral Nanophmentioning

confidence: 99%

Contact lenses for visual rehabilitation in Bilateral Nanophthalmos with Retinal Dystrophy- A case report

et al. 2017

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Background: Nanophthalmos is an uncommon developmental ocular disorder characterized by a small eye with short axial length, high hyperopia and high lens to eye volume ratio due to arrested development of the globe in all directions. Different types of fundus changes can rarely occur with nanophthalmos. Observations: This is a case report of a 17 years old female who presented with bilateral gradual progressive visual loss and photophobia at Tilganga Institute of Ophthalmology on 3 rd July 2015. Her best corrected visual acuity was 20/300 with +12.00Ds/-1.00Dcyl@180 in the right eye and 20/200 with +12.00Ds/-1.50Dcyl@180 in the left eye. Axial lengths of two eyes were markedly shortened with pigmentary changes at the macula and dull foveal reflex along with retinal flecks in the mid-periphery. Full field ERG showed diminished rod and cone waves suggestive of rod and cone dysfunction. With the use of Rigid Gas Permeable (RGP) contact lenses, the acuity improved to 20/200 and 20/125 in the right and left eye respectively. Conclusion: This study proposes the use of contact lenses and light absorptive filters for better visual rehabilitation.

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“…Ultrastructural and histochemical studies have demonstrated abnormal scleral collagen fibers and an alteration in the production of glycosaminoglycans in scleral cells (Trelstad et al 1982;Stewart et al 1991;Shiono et al 1992;Kawamura et al 1996). Although nanophthalmos may occur sporadically, most cases show an autosomal-recessive inheritance (Cross & Yoder 1976;MacKay et al 1987;Altintaş et al 1997).…”

mentioning

confidence: 99%

Exudative retinal detachment in nanophthalmos

Krohn

Seland

1998

Acta Ophthalmologica Scandinavica

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ABSTRACT.Purpose: To report the treatment of exudative retinal detachment in a patient with nanophthalmos. Methods: A 46-year-old man with bilateral nanophthalmos suffered from acute angle-closure glaucoma in his left eye. The first day after a peripheral iridectomy an exudative retinal detachment was obseved. Two months later a partial thickness sclerectomy with a central sclerostomy, covered by a thin film of absorbable gelatine, was performed in each quadrant of the left eye. Results: The retinal detachment gradually resolved and after eight months the retina was completely reattached. Vision, which had been limited to hand movements, improved to 6/18 with correction. Conclusion: Scleral resections are effective in the treatment of nanophthalmic retinal detachment. The use of absorbable gelatine film to cover the sclerectomized area may prevent regeneration of scleral tissue and recurrence of the exudative retinal detachment.

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Familial Nanophthalmos

Cited by 56 publications

References 10 publications

Extreme hyperopia is the result of null mutations inMFRP, which encodes a Frizzled-related protein

Extreme hyperopia is the result of null mutations inMFRP, which encodes a Frizzled-related protein

Contact lenses for visual rehabilitation in Bilateral Nanophthalmos with Retinal Dystrophy- A case report

Exudative retinal detachment in nanophthalmos

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