RESUMO
Norrie disease (ND; OMIM 310600), a rare X-linked recessive genetic disorder, is characterized by congenital blindness and occasionally, sensorineural hearing loss, and developmental delay. The congenital blindness of ND patients is almost untreatable; thus, hearing is particularly important for them. However, the mechanism of hearing loss of ND patients is unclear, and no good treatment is available except wearing hearing-aid. Therefore, revealing the mechanism of hearing loss in ND patients and exploring effective treatment methods are greatly important. In addition, as a serious monogenic genetic disease, convenient gene identification method is important for ND patients and their family members, as well as prenatal diagnosis and preimplantation genetic diagnosis to block intergenerational transmission of pathogenic genes. In this study, a Norrie family with two male patients was reported. This pedigree was ND caused by large fragment deletion of NDP (norrin cystine knot growth factor NDP) gene. In addition to typical severe ophthalmologic and audiologic defects, the patients showed new pathological features of endolymphatic hydrops (EH), and they also showed acoustic nerves abnormal as described in a very recent report. PCR methods were developed to analyze and diagnose the variation of the family members. This study expands the understanding of the clinical manifestation and pathogenesis of ND and provides a new idea for the treatment of patients in this family and a convenient method for the genetic screen for this ND family.
RESUMO
Stickler syndrome type I (STL1, MIM 108300) is characterized by ocular, auditory, skeletal and orofacial manifestations. Nonsyndromic ocular STL1 (MIM 609508) characterized by predominantly ocular features is a subgroup of STL1, and it is inherited in an autosomal dominant manner. In this study, a novel variant c.T100>C (p.Cys34Arg) in COL2A1 related to a large nonsyndromic ocular STL1 family was identified through Exome sequencing (ES). Bioinformatics analysis indicated that the variant site was highly conserved and the pathogenic mechanism of this variant may involve in affected structure of chordin-like cysteine-rich (CR) repeats of ColIIA. Minigene assay indicated that this variant did not change alternative splicing of exon2 of COL2A1. Moreover, the nonsyndromic ocular STL1 family with 16 affected members showed phenotype variability and certain male gender trend. None of the family members had hearing loss. Our findings would expand the knowledge of the COL2A1 mutation spectrum, and phenotype variability associated with nonsyndromic ocular STL1. Search for genetic modifiers and related molecular pathways leading to the phenotype variation warrants further studies.
Assuntos
Artrite , Perda Auditiva Neurossensorial , Artrite/genética , Colágeno Tipo II/genética , Colágeno Tipo II/metabolismo , Doenças do Tecido Conjuntivo , Análise Mutacional de DNA , Perda Auditiva Neurossensorial/genética , Humanos , Masculino , Mutação/genética , Mutação de Sentido Incorreto/genética , Linhagem , Fenótipo , Descolamento RetinianoRESUMO
There are no standardized protocols or guidelines for the treatment of recurrent fungal keratitis after therapeutic keratoplasty. This study aimed to investigate the incidence of recurrent fungal keratitis after the primary keratoplasty and the visual outcome and prognosis after intervention for the recurrence.This was a retrospective study. Patients with recurrent fungal keratitis after lamellar keratoplasty (LK) or penetrating keratoplasty (PK) were treated with different antifungal regimens at Shandong Eye Hospital and Qingdao Eye Hospital between Januray 2004 and December 2015. The operative techniques included PK, focal excision, tectonic keratoplasty with a patch graft, lensectomy and vitrectomy, and combined operation. Patients were followed at 1, 2, and 3 months, and then every 6 months after surgery for 2 years. Best corrected visual acuity was assessed and recurrence was recorded. Good prognosis was defined as the presence of visual acuity.Fungal keratitis recurred in 112 of 1448 patients (112/1448, 7.7%) treated initially with PK or LK. The good prognosis rates for different sites of recurrent fungal keratitis were: overall, 93 of 112 (83.0%); recipient bed, 64 of 69 (92.8%); anterior chamber, 14 of 14 (100%); posterior segment, 10 of 16 (62.5%); and atypical, 5 of 13 (38.5%). There was no significant difference in the timing of recurrence between the good and poor prognosis groups (Pâ=â.518). Recurrence rates were similar between patients with PK (8.6%) and those with LK (6.0%; P > .05), but the good prognosis rate in patients with post-LK recurrence (96.8%) was higher than that in patients with post-PK recurrence (77.8%, Pâ=â.017).Individualized treatment according to recurrent sites of fungal keratitis can achieve a good prognosis in most patients.
Assuntos
Antifúngicos/uso terapêutico , Transplante de Córnea/métodos , Infecções Oculares Fúngicas/epidemiologia , Ceratite/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Infecções Oculares Fúngicas/tratamento farmacológico , Infecções Oculares Fúngicas/cirurgia , Feminino , Humanos , Incidência , Ceratite/tratamento farmacológico , Ceratite/cirurgia , Masculino , Pessoa de Meia-Idade , Prognóstico , Recidiva , Estudos Retrospectivos , Resultado do Tratamento , Acuidade Visual , Adulto JovemRESUMO
AIM: To summarize preoperative evaluation and outcome of corneal transplantation for limbal dermoids for ten years. METHODS: Eighty-five patients diagnosed with limbal dermoids and treated with corneal transplantation were analyzed retrospectively. All patients were further divided into two groups according to absence or presence of neovascularization surrounding the dermoids in the corneal stroma. Eighty-two eyes were treated with tumor excision combined with partial lamellar sclerokeratoplasty, and the other three eyes were performed by penetrating keratoplasty. The size and location of the tumor, the associated ocular and systemic anomalies, the depth of the corneal penetration of tumor tissues, the preoperative and postoperative best-corrected visual acuity (BCVA), graft survival and cosmetic outcome, and surgical complications were recorded respectively. RESULTS: The average age at surgery was 5.3y (range, 3mo-36y). The mean size of dermoids was 6.1±1.6 mm. The 43.5% of eyes (37/85) were present with hair at the surface of the dermoid and 72.9% of dermoids were located inferotemporal of the eye. Amplyopia was present in 34.1% of patients (29/85) and 9.4% of patients (8/85) had lipodermoids. Eighteen patients suffered from Goldenhar's syndrome with an accessory ear. The 75% of patients in group 1 had involvement of the corneal deep stroma down to Descemet's membrane without involving it, but 71.4% of patients had Descemet's membrane involvement in group 2. Preoperative BCVA ranged from counting fingers to 20/20. Postoperatively 81.1% had a BCVA of 20/800 or better. There was no significant difference between the post-surgical BCVA of the two groups (t=1.584, P>0.05). The grafts of 70.5% patients were present as 1+ opacity, 21.1% as 2+ opacity, 8.2% as 3+ opacity and none as 4+ opacity. Surgical complications included graft rejection, microperforation, prolonged reepithelialization, steroid glaucoma, interface neovascularization, and interface hemorrhage. CONCLUSION: The dermoids with neovascularization surrounding them in the corneal stroma invaded deeper tissues in the cornea than those with no neovascularization surrounding them in the corneal stroma. Therefore, surgeons should take care to avoid corneal perforation during the corneal transplantation operation. The majority of patients markedly improved their cosmetic appearance after surgery.