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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

Spontaneous corneal perforation in a child with brittle cornea syndrome. (A) For primary repair of the spontaneous corneal rupture of the right eye 4 corneal sutures were placed and the right eye was covered with a contact lens. (B) After suture removal, cornea healed and mild iris incarceration (arrow) persisted. (C) Optical coherence tomography (OCT) showed the iris incarceration (asterisk∗) to be only adherent on the rear surface of the cornea (arrow). Corneal thickness was 289 μm.
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fig2: Spontaneous corneal perforation in a child with brittle cornea syndrome. (A) For primary repair of the spontaneous corneal rupture of the right eye 4 corneal sutures were placed and the right eye was covered with a contact lens. (B) After suture removal, cornea healed and mild iris incarceration (arrow) persisted. (C) Optical coherence tomography (OCT) showed the iris incarceration (asterisk∗) to be only adherent on the rear surface of the cornea (arrow). Corneal thickness was 289 μm.

Mentions: Five months after first consultation and while the left cloudiness was getting better, the 3-year-old boy presented with a large spontaneous corneal perforation on the right side. The spontaneous perforation extended from the pupil area to the peripheral 1 o'clock position with peripheral iris incarceration. The anterior chamber was flattened and fibrin was seen in front of the lens. After trying to reposition the iris incarceration, 4 corneal sutures were performed. Immediately there was cheese wiring (Figure 3) because of the extremely thin corneas of about 150–200 μm. No more sutures could be fixed. Because of the extreme corneal thinning, there was no opportunity to perform an amnion-transplantation or keratoplasty. Spontaneous wound healing was observed using a bandage contact lens, systemic carboanhydrase inhibitor therapy, and ocular compression bandage for 7 days (Figure 2(A)). The examination after 4 weeks showed a complete corneal epithelialization with iris incarceration but deep anterior chamber and negative Seidel test. Two months after spontaneous corneal rupture another examination under general anesthesia was performed. All 4 sutures were loose so that all of them had to be removed. The pupil seemed rarely round, the optical axis was clear (Figure 2(B)), and fundus evaluation showed normal results. Using OCT, the iris incarceration was seen to be only adherent on the rear surface of the cornea (Figure 2(C)). Six months after spontaneous rupture, iris incarceration was reduced so that optical axis was free and no more surgical intervention was necessary. Best corrected visual acuity (BCVA) of the right eye was 20/400.


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)

Spontaneous corneal perforation in a child with brittle cornea syndrome. (A) For primary repair of the spontaneous corneal rupture of the right eye 4 corneal sutures were placed and the right eye was covered with a contact lens. (B) After suture removal, cornea healed and mild iris incarceration (arrow) persisted. (C) Optical coherence tomography (OCT) showed the iris incarceration (asterisk∗) to be only adherent on the rear surface of the cornea (arrow). Corneal thickness was 289 μm.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

fig2: Spontaneous corneal perforation in a child with brittle cornea syndrome. (A) For primary repair of the spontaneous corneal rupture of the right eye 4 corneal sutures were placed and the right eye was covered with a contact lens. (B) After suture removal, cornea healed and mild iris incarceration (arrow) persisted. (C) Optical coherence tomography (OCT) showed the iris incarceration (asterisk∗) to be only adherent on the rear surface of the cornea (arrow). Corneal thickness was 289 μm.
Mentions: Five months after first consultation and while the left cloudiness was getting better, the 3-year-old boy presented with a large spontaneous corneal perforation on the right side. The spontaneous perforation extended from the pupil area to the peripheral 1 o'clock position with peripheral iris incarceration. The anterior chamber was flattened and fibrin was seen in front of the lens. After trying to reposition the iris incarceration, 4 corneal sutures were performed. Immediately there was cheese wiring (Figure 3) because of the extremely thin corneas of about 150–200 μm. No more sutures could be fixed. Because of the extreme corneal thinning, there was no opportunity to perform an amnion-transplantation or keratoplasty. Spontaneous wound healing was observed using a bandage contact lens, systemic carboanhydrase inhibitor therapy, and ocular compression bandage for 7 days (Figure 2(A)). The examination after 4 weeks showed a complete corneal epithelialization with iris incarceration but deep anterior chamber and negative Seidel test. Two months after spontaneous corneal rupture another examination under general anesthesia was performed. All 4 sutures were loose so that all of them had to be removed. The pupil seemed rarely round, the optical axis was clear (Figure 2(B)), and fundus evaluation showed normal results. Using OCT, the iris incarceration was seen to be only adherent on the rear surface of the cornea (Figure 2(C)). Six months after spontaneous rupture, iris incarceration was reduced so that optical axis was free and no more surgical intervention was necessary. Best corrected visual acuity (BCVA) of the right eye was 20/400.

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