Significant positive and negative associations exist between HLA alleles and AMD. HLA polymorphisms influence the development of AMD, possibly via modulating choroidal immune function.

Twenty-nine patients (16 males, 13 females) with Joubert syndrome were identified from ophthalmology, neurology, and genetic databases covering a 15-year period at Great Ormond Street Hospital, London. Criteria for diagnosis included absent or markedly hypoplastic cerebellar vermis, abnormal eye movements, and developmental delay. Five patients had died. Scans and notes were available for 22 patients, and 18 cases were clinically reviewed. The median age was 10 years 10 months (range 3mo to 19y) and the median follow-up was 8 years 5 months (range 3mo to 19y, with one new patient seen at 3mo of age). Cerebellar vermis hypoplasia/aplasia with 'molar tooth sign' in the axial plane was present in 22 of 22 patients, coloboma in 6 of 22, and polydactyly in 6 of 22. In the 18 clinically reviewed, apnoea occurred in 13 patients. Five had renal problems with cysts and 4 of 5 had abnormal electroretinograms (ERGs). Visual electrophysiology was abnormal in 14 of 18 patients, and in 6 there was evidence of deterioration in the ERG. Blood investigations of organic acids, phytanic acid, very-long-chain fatty acid, and transferrin were normal in 12 patients tested. Developmental assessment showed that 6 of 15 patients aged more than 5 years were at mainstream school, and 12 of 18 had started walking between 22 months and 10 years. Speech difficulties and behavioural problems were prominent.

Aims-To define an unusual macular appearance found in association with nanophthalmos. Methods-A case review. Results-Seven children (aged 8 months to 17 years) with nanophthalmos were examined. They all exhibited the same clinical findings of an unusual yellow macula appearance with retinal folds and crowded optic discs. Visual electrophysiology performed in four cases was normal. Conclusion-A distinctive yellow macular pigmentation with associated chorioretinal folds and crowded optic discs is present in nanophthalmos. It is proposed that the retinal folds are due to a disparity between scleral and retinal growth while the macula discoloration is due to a congenital abnormality in arrangement or position of the luteal pigment and is not degenerative. Included in this case series is the second case in the literature of nanophthalmos associated with Kenny's syndrome. Inheritance of nanophthalmos appears to be autosomal recessive. (Br J Ophthalmol 1998;82:276-279)

Ninety-six cases of anterior globe perforation in children less than 16 years old, requiring surgical repair, were reviewed. Seventy-three patients were male and 23 female, with a mean age of 9 years 4 months. Perforation involving just the cornea was associated with a good visual prognosis unless: it involved the visual axis, resulting in corneal scarring and/or significant astigmatism (> 3.0 DS); it involved greater than one-quarter of corneal diameter; or there was non-compliance with spectacles/patching in patients younger than 8 years old. Injuries involving the lens in those younger than 8 years were associated with a far worse prognosis due to the problems of correcting aphakia. Surgical delay and method of injury did not affect prognosis. Some patients fail to re-attend and greater patient/parent education prior to discharge is recommended.

Aims-To describe the ophthalmic findings in a large cohort of epidermolysis bullosa (EB) patients managed in one large specialist centre. Methods-A case note review of consecutive patients seen at Great Ormond Street Children's Hospital. Data on the dermatological disease, ophthalmic history, and examination were collected and coded onto a data sheet. Results-181 patients: 50 (28%) simplex EB; 15 (8%) junctional EB; 28 (15%) autosomal dominant dystrophic EB; 72 (40%) autosomal recessive dystrophic EB; nine patients (5%) with dystrophic EB whose inheritance could not be ascertained; and seven cases (4%) of EB that could not be classified. Ocular problems were found in 12% (n=6) of simplex patients and 40% (n=6) of those with junctional disease. One patient (of 28) in the autosomal dominant dystrophic group had ocular involvement and 51% (37/72) of patients in the autosomal recessive dystrophic group had ophthalmic complications: corneal (25/ 72), lid ectropions (3/72), lid blisters (5/72), and symblepharon (3/72). Conclusion-Ophthalmic complications are common in EB overall but the incidence varies widely with subtype. Ophthalmic complications are the most severe in the dystrophic recessive and junctional subtypes where there is a need for extra vigilance. The major treatment modality was use of ocular lubricants. (Br J Ophthalmol 1999;83:323-326) Epidermolysis bullosa (EB) is a term for a group of conditions associated with abnormalities of the basement membrane zone of skin and mucous membranes. Most frequently it is genetically determined and congenital although there is an acquired variety. The characteristic features are skin and mucosal fragility starting during infancy with a tendency to blister after even minor trauma. The involvement of the eye with conjunctival and corneal blistering can lead to progressive scarring with reduced vision and even blindness.

Final-year medical students lack confidence in their ability to use the direct ophthalmoscope and to recognise pathology. Based on the findings of this study, we have made focused recommendations in order to improve the confidence of graduating doctors in fundoscopy: (1) early formal instruction, with refresher training for final-year students; (2) increasing clinical exposure to abnormal pathology; (3) the provision of assessment and feedback on student technique. Final-year medical students lack confidence in their ability to use the direct opthalmoscope and to recognise pathology.

Visual evoked potentials (VEP) and electroretinography (ERG) are known as objective and quantitative methods to analyse the functionality of visual pathways. Separately used in the ophthalmologic clinic to evaluate retina (ERG) or central visual pathways (VEP), this study designs a combined protocol with both techniques recorded in one session, and also proposes a normal data base for beagle. Twelve beagle dogs were used to design a 90-minutes protocol by using a mydriatic drug, anaesthetic protocol and a proper electrode placement. Flash stimulation technique was selected, and monocular stimulations were recorded. A large number of parameters regarding light stimulation, recording, amplification, and signal averaging were also controlled. The sequence of testing was: VEP, ERG scotopic and ERG photopic. Dogs were dark-adapted for at least 20 minutes to record VEP and scotopic ERG, and evaluated in a darkened room. Photopic ERG was tested with a prior 10 minutes light-adaptation, in an illuminated room. Characteristic waveforms were obtained. Four peaks were present and named as: P1, N1, P2, and N2 for VEP recordings. However, in ERG recordings, typical a-wave and b-wave were registered, but c-wave was not present. The proposed electrodiagnostic combined protocol in this study allows the assessment of the visual pathway integrity from retina to visual cortex in dogs. This procedure allows to collect the information in the most simple, shorter and less stressful manner for the patient. RESUMEN Los potenciales evocados visuales (PEV) y la electrorretinografía (ERG) son dos métodos de análisis objetivo y cuantitativo de la funcionalidad de las vías visuales, que se realizan de forma independiente en la clínica oftalmológica para la evaluación de la retina o de las vías visuales centrales, respectivamente. El presente trabajo propone un protocolo clínico combinado de ambas técnicas en una única sesión, además de una base de datos normales para la raza beagle. Se emplearon 12 beagles para diseñar un protocolo de 90 minutos de duración que incluía el uso de midriáticos, protocolo anestésico y colocación apropiada de electrodos de registro. La técnica de estimulación luminosa seleccionada fueron flashes de luz blanca emitidos de modo monocular. Diversos parámetros de estimulación, registro, amplificación y filtrado fueron calibrados. La secuencia de estimulación fue: PEV, ERG escotópico y ERG fotópico. Las 2 primeras técnicas se realizaron en oscuridad con previa adaptación ocular de 20 minutos, mientras que la última se realizó con luminosidad ambiente y previa adaptación a la luz de 10 minutos. La gráfica de PEV mostró 4 picos (P1, N1, P2, N2), mientras que el ERG mostró las típicas ondas (a y b) sin presencia de onda-c. Este procedimiento permite recoger los registros de ambas pruebas electrodiagnósticas de la manera más simple y menos estresante para el paciente canino, y propone una base de datos normales actualizada para el beagle. Palabras clave: electrodiagnóstico, electrorretinografía, potenciales evocados visu...

Aims-To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. Methods-Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible. Results-Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other. Conclusion-Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele. (Br J Ophthalmol 1998;82:290-293)