You searched for "nyctalopia"

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Feb/Mar 2014 Quiz 2

History A 65-year-old lady presented with a ten year history of nonspecific visual disturbance and mild symptoms of dry eyes. Questioning revealed progressive nyctalopia. Previous medical history of note included Crohn’s disease requiring two bowel resections including small intestine. Figure...

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...

Visual snow syndrome: a review

Visual snow syndrome (VSS) is a neurological condition characterised by visual phenomena described as dots moving across the visual field. Other visual symptoms can take the form of palinopsia, entopic phenomena, photophobia and nyctalopia. Tinnitus and migraine can be commonly...

Pigmented paravenous retinochoroidal atrophy

Presentation A 46-year-old Caucasian female was referred to the eye clinic by her local optician following a routine sight test. She was noted to have pigmentary retinal changes in both eyes but was asymptomatic with no visual complaints. At presentation...

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]....

Cancer associated retinopathy

Abdul Muhyemin Tarin reviews the presentation, pathophysiology and management of this paraneoplastic syndrome. Case presentation A 60-year-old hypermetropic female patient presented with several months’ history of painless blurred vision. Visual acuity (VA) was 6/24 and 6/9-1 in right and left...

Rare eye diseases: progress continues with authorised orphan medicines and breakthrough technologies

An update on the development of orphan medicines, recent regulatory treatment approvals for rare eye conditions and advances in retinal prosthetic technologies for blinding diseases. The prevalence of a rare disease is based usually on a range of estimates and...

Usher syndrome: an overview

Usher syndrome is the most common hereditary condition that affects both vision and hearing. It is an autosomal recessive condition characterised by retinitis pigmentosa (RP) and bilateral sensorineural hearing loss [1,2]. Usher syndrome is the cause of approximately 10% of...

High score

Louie: “Allow me to present Pac-Man. Now, who is going to be the lucky pup who gets to play the first game? Iggy! You’re a somewhat compulsive personality. Step forward. Now… you see there’s the maze.” Iggy: “Uh-huh” Louie: “All...

A career in uveitis

As he retires from clinical practice, the author looks back on his long career in uveitis and how care of these patients has changed dramatically since his days as an undergraduate. My trainees and fellows are often bored by my...