Pattern Dystrophy - Deaf - Developmental Delay
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45-year-old woman who I saw in the office on March 12, 2009. She was examined through an interpreter, Arlene, who was very helpful. She is currently staying at the an assisted living facility and she is congenitally deaf. She has diabetes for the last two years. She also has developed mental delay and memory problems. You saw a problem with the retina and suggest that she come in here for an evaluation. She has a lazy eye in the right eye.
VISUAL ACUITY: OD 20/200, OS 20/50. IOP: OD 18, OS 23. She has sluggish pupillary responses in both eyes.
SLIT EXAMINATION: There is 2+ nuclear sclerosis in both eyes.
EXTENDED OPHTHALMOSCOPY:
OD: Vertical C/D ratio is 0.0. The optic nerve is small and slightly tilted. There is geographic atrophy in the macula. There is no intraretinal or subretinal fluid.
OS: Vertical C/D ratio is 0.0. Again the nerve is small and tilted. There is non geographic atrophy in the macula with 2+ macular drusen. Photos confirm clinical findings.
OCT SCAN: The OCT scan shows mild retinal atrophy. We did not obtain a fluorescein angiogram.
IMPRESSION:
1. OPTIC NERVE HYPERPLASIA – BOTH EYES
2. TILTED DISC SYNDROME – BOTH EYES
3. MACULAR DEGENERATION TYPE MACULAR DYSTROPHY – BOTH EYES
4. CONGENITAL DEAFNESS
5. DIABETES WITHOUT RETINOPATHY
DISCUSSION: I explained to the interpreter and I spoke with the patient’s caregivers that I think it is possible she may have a genetic syndrome. There are a few entities, one is, there are mitochondrial diseases such as maternally inherited diabetes and deafness, which is sometimes associated with a pattern dystrophy type macular dystrophy, which is similar of her early appearance of her macular, which she may have. I suggested that she return here for a check in three months so I could re-evaluate her macula. I also suggested that she see a pediatric geneticist, at University of South Florida.
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Pattern Dystrophy - Congenital Deafness - Diabetes - Developmental Delay - Macula Right Eye Yellow Submacular Deposits690 views45-year-old woman congenitally deaf. She has diabetes for the last two years. She also has developed mental delay and memory problems. OD 20/200, OS 20/50. She has sluggish pupillary responses in both eyes.
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Pattern Dystrophy - Congenital Deafness - Diabetes - Developmental Delay - Fundus Photo Left Eye - Yellow Submacular Deposits709 views45-year-old woman congenitally deaf. She has diabetes for the last two years. She also has developed mental delay and memory problems. OD 20/200, OS 20/50. She has sluggish pupillary responses in both eyes.
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Pattern Dystrophy - Congenital Deafness - Diabetes - Developmental Delay - Fundus Photo Right Eye Yellow Submacular Deposits531 views45-year-old woman congenitally deaf. She has diabetes for the last two years. She also has developed mental delay and memory problems. OD 20/200, OS 20/50. She has sluggish pupillary responses in both eyes.
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Pattern Dystrophy - Congenital Deafness - Diabetes - Developmental Delay - Color Fundus Photo Left Eye689 views45-year-old woman congenitally deaf. She has diabetes for the last two years. She also has developed mental delay and memory problems. OD 20/200, OS 20/50. She has sluggish pupillary responses in both eyes.
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Pattern Dystrophy - Congenital Deafness - Diabetes - Developmental Delay - OCT Line Scan Right Eye543 views45-year-old woman congenitally deaf. She has diabetes for the last two years. She also has developed mental delay and memory problems. OD 20/200, OS 20/50. She has sluggish pupillary responses in both eyes.
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Pattern Dystrophy - Congenital Deafness - Diabetes - Developmental Delay - OCT Line Scan Left Eye556 views45-year-old woman congenitally deaf. She has diabetes for the last two years. She also has developed mental delay and memory problems. OD 20/200, OS 20/50. She has sluggish pupillary responses in both eyes.
(0 votes)
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45-year-old woman who I saw in the office on March 12, 2009. She was examined through an interpreter, Arlene, who was very helpful. She is currently staying at the an assisted living facility and she is congenitally deaf. She has diabetes for the last two years. She also has developed mental delay and memory problems. You saw a problem with the retina and suggest that she come in here for an evaluation. She has a lazy eye in the right eye.
VISUAL ACUITY: OD 20/200, OS 20/50. IOP: OD 18, OS 23. She has sluggish pupillary responses in both eyes.
SLIT EXAMINATION: There is 2+ nuclear sclerosis in both eyes.
EXTENDED OPHTHALMOSCOPY:
OD: Vertical C/D ratio is 0.0. The optic nerve is small and slightly tilted. There is geographic atrophy in the macula. There is no intraretinal or subretinal fluid.
OS: Vertical C/D ratio is 0.0. Again the nerve is small and tilted. There is non geographic atrophy in the macula with 2+ macular drusen. Photos confirm clinical findings.
OCT SCAN: The OCT scan shows mild retinal atrophy. We did not obtain a fluorescein angiogram.
IMPRESSION:
1. OPTIC NERVE HYPERPLASIA – BOTH EYES
2. TILTED DISC SYNDROME – BOTH EYES
3. MACULAR DEGENERATION TYPE MACULAR DYSTROPHY – BOTH EYES
4. CONGENITAL DEAFNESS
5. DIABETES WITHOUT RETINOPATHY
DISCUSSION: I explained to the interpreter and I spoke with the patient’s caregivers that I think it is possible she may have a genetic syndrome. There are a few entities, one is, there are mitochondrial diseases such as maternally inherited diabetes and deafness, which is sometimes associated with a pattern dystrophy type macular dystrophy, which is similar of her early appearance of her macular, which she may have. I suggested that she return here for a check in three months so I could re-evaluate her macula. I also suggested that she see a pediatric geneticist, at University of South Florida.
