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RETINAL DYSTROPHIES AND SYNDROMES

LCHAD Deficiency

Clinical Case 02

LCHAD Deficiency - Clinical Case 02

Ultra-widefield photograph in an 8-years-old female patient with deficiency of LCHAD (long-chain 3-hydroxyacil.coA dehydrogenase) secondary to more frequent homozygous mutation in the gene of HADHA. Note the pigmented deposits in the middle and periphery. VA: 20/20 RE

LCHAD Deficiency - Clinical Case 02

Fundus photograph, in same case, showing normal colour disc, normal vasculature and pigmented areas at macular and peripheral retina. It has an abormal accumulation of pigment at the retinal pigment epithelium that develops to scattered areas of RPE atrophy

Evaluations

1st evaluation

13 0

20 09 2010 - Autofluorescence

Autofluorescence photograph showing a pattern predominantly hypofluorescent with some areas of normal fluorescence

Autofluorescence photograph showing a pattern predominantly hypofluorescent with some areas of normal fluorescence

20 09 2010 - Colour Retinography

Ultra-widefield photograph in an 8-years-old female patient with deficiency of LCHAD (long-chain 3-hydroxyacil.coA dehydrogenase) secondary to more frequent homozygous mutation in the gene of HADHA. Note the pigmented deposits in the middle and periphery. Visual acuity: 20/20 RE

Ultra-widefield photograph magnification of posterior pole, with red separation view, in same case

Ultra-widefield photograph in an 8-years-old female patient with deficiency of LCHAD (long-chain 3-hydroxyacil.coA dehydrogenase) secondary to more frequent homozygous mutation in the gene of HADHA. Note the pigmented deposits in the middle and periphery. Visual acuity was 20/20 LE

Ultra-widefield photograph magnification of posterior pole, with red separation view, in same case

Ultra-widefield photograph magnification of posterior pole, with green separation view, in same case

Fundus photograph, in same case, showing normal colour disc, normal vasculature and pigmented areas at macular and peripheral retina. It has an abormal accumulation of pigment at the retinal pigment epithelium that develops to scattered areas of RPE atrophy

Fundus photograph, in same case, showing normal colour disc, normal vasculature and pigmented areas at macular and peripheral retina. It has an abormal accumulation of pigment at the retinal pigment epithelium that develops to scattered areas of RPE atrophy

13 01 2010 - OCT B-Scan (Longitudinal)

OCT horizontal line-scan shows normal macula

2nd evaluation

24 0

21 05 2012 - Autofluorescence

Ultra-widefield photograph of autofluorescence

Ultra-widefield photograph of autofluorescence

21 05 2012 - Colour Retinography

Ultra-widefield photograph 2 years after 1st evaluation

Ultra-widefield photograph 2 years after 1st evaluation

Ultra-widefield photograph, with an amplifier

Ultra-widefield photograph, with an amplifier

Ultra-widefield photograph, with simulated white light, 2 years after 1st evaluation

Ultra-widefield photograph, with simulated white light, 2 years after 1st evaluation

21 05 2012 - OCT B-Scan (Longitudinal)

Centro Cirúrgico de Coimbra

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