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Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.

Avgitidou G, Siebelmann S, Bachmann B, Kohlhase J, Heindl LM, Cursiefen C - Case Rep Ophthalmol Med (2015)

Bottom Line: A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1.Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture.The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, University of Cologne, 50937 Cologne, Germany.

ABSTRACT
A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.

No MeSH data available.


Related in: MedlinePlus

Acute keratoconus with hydrops in a 3-year-old child with brittle cornea syndrome. (A) Left eye three months after acute keratoconus with already clearing corneal cloudiness. (B) Seven months after acute keratoconus only little subepithelial scars remained. (C) Optical coherence tomography (OCT) at 7 months after acute hydrops demonstrated steepness and thinning of cornea. Corneal thickness centrally was 259 μm.
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fig1: Acute keratoconus with hydrops in a 3-year-old child with brittle cornea syndrome. (A) Left eye three months after acute keratoconus with already clearing corneal cloudiness. (B) Seven months after acute keratoconus only little subepithelial scars remained. (C) Optical coherence tomography (OCT) at 7 months after acute hydrops demonstrated steepness and thinning of cornea. Corneal thickness centrally was 259 μm.

Mentions: To avoid amblyopia, there was an occlusion performed of the right eye for two hours per day and glasses were prescribed. Seven months after acute keratoconus, corneal cloudiness was nearly completely cleared under local antibiotic and hyperosmolar treatment with only little subepithelial scars remaining (Figures 1(A) and 1(B)) and a visual acuity of 0.2 in the left eye. Optical coherence tomography (OCT) showed steepness of the cornea and a central pachymetry on the left side of now 259 μm (Figure 1(C)). A clear fundus view was given, so that at this moment there is no keratoplasty indicated.


Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.

Avgitidou G, Siebelmann S, Bachmann B, Kohlhase J, Heindl LM, Cursiefen C - Case Rep Ophthalmol Med (2015)

Acute keratoconus with hydrops in a 3-year-old child with brittle cornea syndrome. (A) Left eye three months after acute keratoconus with already clearing corneal cloudiness. (B) Seven months after acute keratoconus only little subepithelial scars remained. (C) Optical coherence tomography (OCT) at 7 months after acute hydrops demonstrated steepness and thinning of cornea. Corneal thickness centrally was 259 μm.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4499622&req=5

fig1: Acute keratoconus with hydrops in a 3-year-old child with brittle cornea syndrome. (A) Left eye three months after acute keratoconus with already clearing corneal cloudiness. (B) Seven months after acute keratoconus only little subepithelial scars remained. (C) Optical coherence tomography (OCT) at 7 months after acute hydrops demonstrated steepness and thinning of cornea. Corneal thickness centrally was 259 μm.
Mentions: To avoid amblyopia, there was an occlusion performed of the right eye for two hours per day and glasses were prescribed. Seven months after acute keratoconus, corneal cloudiness was nearly completely cleared under local antibiotic and hyperosmolar treatment with only little subepithelial scars remaining (Figures 1(A) and 1(B)) and a visual acuity of 0.2 in the left eye. Optical coherence tomography (OCT) showed steepness of the cornea and a central pachymetry on the left side of now 259 μm (Figure 1(C)). A clear fundus view was given, so that at this moment there is no keratoplasty indicated.

Bottom Line: A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1.Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture.The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, University of Cologne, 50937 Cologne, Germany.

ABSTRACT
A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.

No MeSH data available.


Related in: MedlinePlus