Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea. The disease has its metabolic origin in the diminished transformation of fatty acid substrates into n-3 polyunsaturated fatty acids due to a dysregulation of the lipid metabolism. In this review, we provide updated insights on clinical and molecular characteristics of BCD including underlying mechanisms of BCD, genetic diagnosis, progress in the identification of causative genetic and epigenetic factors, available techniques of exploration and development of novel therapies. This information will help clinicians to improve accuracy of BCD diagnosis, providing the patient reliable information regarding prognosis and clinical prediction of the disease course.

Purpose: The purposes of this study were to evaluate the genotypic and phenotypic correlations of Bietti crystalline dystrophy and to investigate the utility of in vivo corneal confocal microscopy in diagnosing this disorder. Methods: A Spanish woman (proband) with a clinical diagnosis of Bietti crystalline dystrophy and 7 members of her family were recruited prospectively for complete clinical ophthalmic examination and genetic study. The medical records of an additional family member were reviewed retrospectively. Genomic DNA was obtained from blood samples, and 11 exons of the CYP4V2 gene were screened for mutations by polymerase chain reaction DNA sequencing. Results: Clinical examination revealed an atypical pattern of corneal dystrophy with central and paracentral distribution not only in the proband but also in 2 elderly heterozygous carriers. Corneal deposits were observed by slit-lamp examination and in vivo corneal confocal microscopy. Genetic analysis revealed the homozygous CYP4V2 Ile111Thr mutation in the proband and identified 5 heterozygous carriers. Conclusions: The authors identified a case of Bietti crystalline dystrophy with central and paracentral keratopathy and the molecular analysis of the causative gene in a Spanish family. Data suggest a dose-dependent phenotype ranging from subclinical corneal changes in subjects carrying 1 mutant Ile111Thr CYP4V2 allele to the complete manifestation of the disease in homozygous subjects. In vivo corneal confocal microscopy is a useful technique in the diagnosis of this disorder.

Mentally retarded patients with keratoconus who underwent penetrating keratoplasty (PK) were reviewed to determine long-term graft survival outcome. This longitudinal retrospective study included 20 mentally retarded patients who underwent PK at the University Hospital of Alicante during the years 1978-2007. Variables included donor corneal study, type and level of mental retardation, demographic data, age at which PK was performed, preoperative ocular and corneal study, surgical technique, histopathologic study, complications, immunological graft rejection, mean suture permanency, corneal endothelium study, and final anatomic and visual outcome. Thirty-nine penetrating keratoplasties were performed on 28 eyes of 20 patients. Mean age at time of surgery was 29.6 years (range 17-54 years). Follow-up ranged from 8 to 324 months, with a mean of 83.93 months. Vernal keratoconjunctivitis, cataract, and posterior capsular opacification were the most frequent complications during follow-up. Fifteen episodes of immunological graft rejection were registered. At the final examination, 23 grafts remain clear and 5 cloudy. Causes of corneal opacification were self-trauma, corneal ulceration, and immunological graft rejection. Four eyes developed ptisis bulbi. PK is a safe procedure in mild and moderately mentally retarded patients without compulsive ocular patterns. In patients with associated eye rubbing or ocular self-trauma, the election has to be made individually and carefully assuming an additional risk of serious complications. Providing medical education to caregivers is essential for the correct management of these patients.

Purpose: To evaluate the medical and surgical management and treatment of ocular injuries with chestnut burr recorded at the Hospital El Bierzo between 2009 and 2015. Methods: A prospective study of ocular injuries with chestnut burr was conducted for the period from 2009 to 2015. Patients were detected in the Emergency Department and referred to the Ophthalmology Department for study and medical and surgical treatment. Ten eyes were evaluated in 10 patients. The injuries ranged from ocular contusion without corneal involvement to trauma with corneal perforation caused by spines. One patient with chronic retention of spines in the intrastromal corneal ring was included. Results: Six of the eyes studied had chestnut burr spines in the cornea, one of which was chronically retained in the intrastromal cornea. One case of spine-induced corneal perforation was also studied. Six of the patients required surgery, 2 required removal of the spine using a slit lamp, 2 required outpatient medical treatments, and a wait-and-see approach was taken in 1 patient. All patients progressed favorably, and no surgical complications were recorded. Conclusions: Proper occupational risk prevention and the use of eye protection glasses are fundamental in avoiding these accidents. Once they have occurred, medical and surgical management must be done early and on an individual basis depending on the severity and location of the injuries, to avoid potentially serious complications.