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RETINAL DYSTROPHIES AND SYNDROMES

Con-Rod Dystrophies

Clinical Case 01

Con-Rod Dystrophies - Clinical Case 01

Ultra-widefield photograph in a 22-year-old male with the diagnosis of cone-rod dystrophy. He complained of photophobia and nyctalopia since the age of 3. This non-syndromic dystrophy was inherited in an autosomal recessive manner. At this stage, BCVA: < 20/400 RE; 20/400 LE

Con-Rod Dystrophies - Clinical Case 01

Fundus photograph of cone-rod dystrophy in the same patient. Note the peripheral pigmented spicules, pale optic disc and RPE atrophy of the macular area

Evaluations

1st evaluation

13 0

31 07 2009 - Anterior Segment Photo

Anterior segment photograph (RE) in a 22-year-old male with the diagnosis of cone-rod dystrophy

Anterior segment photograph (LE) in a 22-year-old male with the diagnosis of cone-rod dystrophy.

Anterior segment photograph after pupillary dilation in the same patient.

Anterior segment photograph after pupillary dilation in the same patient.

31 07 2009 - Colour Retinography

Fundus photograph of cone-rod dystrophy. Note the peripheral pigmented spicules, pale optic disc and RPE atrophy of the macular area

31 07 2009 - OCT B-Scan (Longitudinal)

2nd evaluation

22 0

07 09 2010 - Autofluorescence

Autofluorescence photograph showing confluent spots of hypoautofluorescence at macular area and periphery secondary to RPE atrophy. Hyperautofluorescence is present in the nasal peripapillary area.

Autofluorescence photograph showing confluent spots of hypoautofluorescence at macular area secondary to RPE atrophy

Autofluorescence photograph showing confluent spots of hypoautofluorescence at macular area and periphery secondary to RPE atrophy. Hyperautofluorescence is present in the nasal peripapillary area.

07 09 2010 - Colour Retinography

Ultra-widefield photograph in a 22-year-old male with the diagnosis of cone-rod dystrophy. He complained of photophobia and nyctalopia since the age of 3. This non-syndromic dystrophy was inherited in an autosomal recessive manner. At this stage, BCVA: < 20/400 RE; 20/400 LE

Ultra-widefield photograph in a 22-year-old male with the diagnosis of cone-rod dystrophy

Ultra-widefield magnification photo in a 23-year-old male with AR cone-rod dystrophy. Findings include pale optic disc, attenuated retinal vessels (ghost vessels infero-nasal quadrant), bone spicules inside and ouside the vascular arcades and generalized RPE changes.

Ultra-widefield magnification photo in a 23-year-old male with AR cone-rod dystrophy. Findings include pale optic disc, attenuated retinal vessels (ghost vessels infero-nasal quadrant), bone spicules inside and ouside the vascular arcades and generalized RPE changes.

07 09 2010 - Infrared

07 09 2010 - OCT B-Scan (Longitudinal)

07 09 2010 - Red-free

Red-free of a patient with cone-rod dystrophy. Densely packed bone spicules especially in the peripheral retina and generalized important changes in the RPE

Red-free of a patient with cone-rod dystrophy. Densely packed bone spicules especially in the peripheral retina and generalized important changes in the RPE

Red-free of a patient with cone-rod dystrophy. Densely packed bone spicules especially in the peripheral retina and generalized important changes in the RPE

Generalized macular changes in the RPE with some bone spicules in the outer macula

3rd evaluation

6 0

25 07 2013 - Autofluorescence

Ultra-widefield photograph of autofluorescence, 4 years after the first evaluation

Ultra-widefield photograph of autofluorescence, 4 years after the first evaluation

25 07 2013 - OCT B-Scan (Longitudinal)

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