ABSTRACT
X-linked retinoschisis (XLRS) is a rare vitreoretinal dystrophy caused by molecular genetic changes in the RS1 gene. It usually manifests itself at a young age with symmetrical splitting within different layers of the retina and leads to a significant reduction in visual acuity. Correct diagnosis at older ages is difficult due to nonspecific changes in OCT scans. We report the morphological changes in OCT scans at different stages of life in a family with XLRS and a novel mutation in the RS1 gene. Our 78-year-old index patient presented with visual disturbances that he had experienced since his childhood. After a detailed anamnesis, complete clinical examination and measurement with SD-OCT, we performed germline genetic testing using whole blood DNA on the index patient, his clinically unaffected daughter and her clinically affected son. The OCT examination of the index patient showed nonspecific atrophic macular changes on both sides. A fundoscopy of the 8-year-old grandson showed the typical macular star pattern. The OCT scan showed the typical retinoschisis of the macula. The genetic analysis revealed the previously undescribed pathogenic variant c.487T>G; p.Trp163Gly in the RS1 gene in all 3 patients. The typical fundus image and OCT pattern, which are absent in the 78-year-old patient, are also present in childhood with the novel RS1 mutation. Our case shows that even with nonspecific changes in the OCT scans, a detailed family history can provide important information on X-linked recessive inheritance and thus for an appropriate molecular genetic diagnosis, so that rare retinal diseases can be diagnosed even at an advanced age.
Subject(s)
Retinoschisis , Humans , Male , Female , Aged , Child , Retinoschisis/diagnostic imaging , Retinoschisis/genetics , Tomography, Optical Coherence , Electroretinography , DNA Mutational Analysis , Eye Proteins/genetics , Mutation/geneticsABSTRACT
A 53-year-old patient consulted our practice clinic complaining of progressive visual loss, increased glare sensitivity and color sense disorder. Extensive diagnostic investigation, including multifocal ERG (mfERG) and macular thickness map with the help of optical coherence tomography (OCT), supported the suspected diagnosis of a cone dystrophy. There are, however, no established therapeutic options. A diagnostic confirmation by means of molecular genetics was not successful.
Subject(s)
Cone Dystrophy , Tomography, Optical Coherence , Cone Dystrophy/diagnosis , Electroretinography , Fluorescein Angiography , Humans , Middle Aged , Transcriptional Regulator ERG , Vision DisordersABSTRACT
PURPOSE: To report a novel missense mutation of the cornea specific keratin 12 (KRT12) gene in two generations of a German family diagnosed with Meesmann;s corneal dystrophy. METHODS: Ophthalmologic examination of the proband and sequencing of keratin 3 (KRT3) and KRT12 of the proband and three other family members were performed. Restriction enzyme analysis was used to confirm the detected mutation in affected individuals of the family. RESULTS: Slit-lamp biomicroscopy of the proband revealed multiple intraepithelial microcysts comparable to a Meesmann dystrophy phenotype. A novel heterozygous A-->G transversion at the first nucleotide position of codon 129 (ATG>GTG, M129V) in exon 1 of KRT12 was detected in the proband, her two affected sons but not in her unaffected husband or 50 control individuals. CONCLUSIONS: We have identified a novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann;s corneal dystrophy in a German family.
Subject(s)
Cornea/metabolism , Corneal Dystrophies, Hereditary/genetics , Corneal Dystrophies, Hereditary/metabolism , Keratin-12/genetics , Keratin-12/metabolism , Mutation, Missense , Adenine , Aged, 80 and over , Codon , Corneal Dystrophies, Hereditary/pathology , Exons , Female , Guanine , Heterozygote , Humans , Male , Polymorphism, GeneticABSTRACT
BACKGROUND: Pseudomonas aeruginosa is the most common cause of bacterial-associated keratitis in soft contact lens wearers, due to wrong use of soft contact lenses. Problems are often severe corneal ulcers and even corneal perforations. We report on a soft contact lens wearer with credibly correct use of soft contact lenses and nosocomial Pseudomonas aeruginosa-associated keratitis. CASE REPORT: A 33-year old woman suffered from corneal ulcer and corneal infiltration with beginning endophthalmitis 2 days after having used of new soft contact lenses. After systemic and local antibiosis and penetrating keratoplasty we could stop endophthalmitis before reaching the vitreous and retina. RESULTS: Histological and microbiological examinations showed a corneal ulcer with severe corneal infection due to Pseudomonas aeruginosa with resistance to mezlocillin and intermediale resistance to gentamicin. After therapy a stable situation with visual acuity of 20/60 was attained. CONCLUSIONS: Previous reports on Pseudomonas aeruginosa-associated keratitis in soft contact lens wearers demonstrate corneal problems due to extended or overnight wear or unsuccessful contact lens cleaning. We present a case of nosocomial corneal infection after soft contact lens wearing and nosocomial infection because of contact with a partner working in an intensive-care unit. Hygienic rules should be strictly followed by patients and staff using soft or hard contact lenses for visual correction or for therapeutic reasons.
Subject(s)
Contact Lenses, Hydrophilic/microbiology , Corneal Ulcer/microbiology , Cross Infection/transmission , Keratitis/diagnosis , Keratitis/microbiology , Pseudomonas Infections/transmission , Pseudomonas aeruginosa , Adult , Anti-Bacterial Agents , Combined Modality Therapy , Corneal Ulcer/diagnosis , Corneal Ulcer/drug therapy , Cross Infection/diagnosis , Cross Infection/drug therapy , Drug Resistance, Multiple , Drug Therapy, Combination/therapeutic use , Endophthalmitis/diagnosis , Endophthalmitis/drug therapy , Endophthalmitis/transmission , Humans , Keratitis/drug therapy , Keratoplasty, Penetrating , MaleABSTRACT
BACKGROUND: Several early and late complications have been described since the introduction of cerclage surgery using a supramid suture. Due to cutting of the supramid suture through scleral tissue the supramid suture may appear at the fundus. Long-term results of scleral penetration and crossing the bulbus by the supramid suture, which is then only covered by the retina ("clothesline phenomenon"), could not be described so far. We report on a patient 20 years after cerclage surgery with Arruga's suture. CASE REPORT: A now 63-year old female patient with high myopia (D - 14.0 OU) suffering from complete retinal detachment had had ophthalmic surgery using Arruga's encircling suture with additional horizontal buckling at her left eye in 1983. Postoperative visual acuity was 10/20. The retina was attached. In 2002 phakoemulsification with posterior chamber lens implantation due to cataracta corticalis was done externally. In 2003 a complete scleral and chorioidal penetration and appearance of the Arruga's suture behind the retina occurred extending from 4 over 6 to 8 o'clock position with a visual acuity of 20/25. The patient did not agree with the cutting of the suture at any time. CONCLUSIONS: The "clothesline phenomenon" is a very rare late complication after encircling surgery using an Arruga suture by retinal detachment. Suture cutting is suggested because of a possible risk of retinal detachment. As shown in our case report, stable retinal attachment after Arruga's suturing is possible.
