A 44-year-old woman referred a decrease in visual acuity (VA) for 1 year.
The VA with the best correction is 0.2 in both eyes (AO).
Both pupils are bradycardic.
Anterior segment and normal intraocular pressure (IOP).
It is observed in the eyebrow bed a very important authenticity, almost identical in the temporal sector of AO major in the right eye (OD).
Fluorescein angiography (FA) showed no evidence of staining or microvascular abnormalities or telangiectasia peripapi.
In the study with Optical Coherence Tomography (OCT) of the thickness of the nerve fiber layer (CFN axis) the parameters of parapapillary thickness are calculated and horizontally evaluated in a vertical circular scan.
For measurements, the «Fast RNFL Thickness (3.4)» mode under pharmacological mydriasis was used.
Measurements were analyzed using the «RFNL Thickness Analysis» protocol, which quantifies the Average Thickness Analysis (μ) total, in four peri-serial analysis sectors, and in nine hourly reports.
OCT marks a significant decrease in the thickness of the middle RNFL, mainly at the level of the temporal and inferior quadrant regions in the RE and in the entire papilla in the left.
In the color test there is an important dyschromatopsia in BE without a clear pattern, but with a greater alteration in the blue-yellow axis.
In the visual field, a central-cecal defect in BE is observed.
Low amplitude visual evoked potentials (VEP) with extended latencies are found.
The electroretinogram was normal.
Smoker of two packs a day, refers to having a poor diet, so it is recommended that he abandons smoking and the taking of a starch complex.
Laboratory tests with vitamin B12 and folic acid levels are normal.
Magnetic resonance imaging showed no signs of demyelination.
Although at six months vision had improved to 0.3 in BE, no change in VA, visual field or OCT was found in subsequent controls in two years of follow-up.
One year ago, his 29-year-old brother affected by a decrease in VA.
Maybe she has a sister under study for «something» in NO:
VA was 0.3 in BE, 0.4 in binocular.
The anterior segment and IOP were normal.
Temporal papillary stenosis was detected in the fundus of the eye without telangiectasia.
OCT showed a significant decrease in the mean thickness of the RNF, especially regarding the eccentric contractions of the temporal and inferior sectors.
The visual field study shows central and centrocaecal defects in BE.
The patient has a dyschromatopsia, tritanopia.
In VEP pattern type, there is a decrease in amplitude with slightly extended latencies.
Currently the visual acuity has decreased to 0.2 in BE, 0.3 binocular.
No changes were found in OCT or visual field.
Smoking one pack a day has been advised to stop smoking.
Both patients undergo six-monthly revisions, and at this time genetic studies are being conducted.
