You searched for "dystrophy"

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Apr/May 2017 Quiz

History A five-month-old baby was seen in clinic with bilateral congenital corneal opacities. The right cornea is shown in Figure 1. Figure 1. Examination revealed corneal oedema and opacities of Descemet’s membrane and endothelium with a few vesicular lesions. Corneal...

Risk factors for DSEAK graft detachment

This was a retrospective data review on all patients who underwent primary descemet stripping automated endothelial keratoplasty (DSEAK) during a 10 year period: 1212 eyes were included in the analysis. Postoperative graft detachment occurred in 45 eyes (3.7%) and required...

Genetic analysis of choroideremia families

Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...

Climatic droplet keratopathy

Climatic droplet keratopathy (CDK) is an acquired and potentially handicapping corneal degenerative disease that is highly prevalent in certain rural communities around the world. It predominantly affects males in their 40’s and is known by many other names such as...

Descemetorhexis without endothelial keratoplasty

This retrospective study examined outcomes of the largest reported series of eyes, which underwent Descemetorhexis without endothelial keratoplasty (DWEK) for Fuch’s endothelial dystrophy with mean 10 months of follow-up. Seventeen eyes were included in analysis; with 82.4% achieving corneal clearance...

Nystagmus and associated diagnosis

Patients with nystagmus attending a Low Vision clinic in Sweden were included in this study. Medical records were reviewed to exclude those with general diagnoses that could explain the nystagmus. The remaining group of patients underwent subjective refraction, retinoscopy, ocular...

Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide

X-linked retinoschisis (XLRS) is an early onset hereditary retinal dystrophy. It is caused by mutations of the RS1 gene. Common manifestations of XLRS are schitic lesions at the macula, as well as infero-temporal schisis. Carbonic anhydrase inhibitors have previously been...

Long-term outcomes of surgery for vertical head posture

The authors report long-term follow-up of a series of seven patients with nystagmus and chin up or chin down head posture that underwent vertical extraocular muscle (EOM) surgery. Mean age at surgery was 56 months (19-96 months). All had horizontal...

Predictors for developing strabismus after paediatric cataract surgery

This study investigates the predictors for strabismus development in patients with paediatric cataract and their final visual acuity. The aim was to improve the treatment of both deprivation and strabismic amblyopia after surgery. The study included 46 children; 21 male,...

Nystagmus in infants (0–1 year)

This article from a tertiary hospital in Jerusalem documents the examination and investigations of 147 infants aged 0–1 years with nystagmus. The most common pathologies were albinism (59%) and inherited retinal dystrophy (IRD) (21%). They had eight patients with vertical...

Prevalence of visual function impairment in congenital ptosis

This study sought to evaluate the prevalence of visual function loss in the setting of congenital ptosis. This was a retrospective study of 155 eyes of 134 patients; 72 males and 62 females. Mean age at diagnosis was 7.8 ±5.8...

An update on inherited retinal disorders (part 1) – overview and assessment of inherited retinal disease

Part 2 of this topic can be found here Inherited Retinal Disease (IRD) is the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales and the second most common in childhood [1]....