{"id":8130,"date":"2025-04-25T18:45:45","date_gmt":"2025-04-25T18:45:45","guid":{"rendered":"http:\/\/zvezdinka.com\/?p=8130"},"modified":"2025-09-20T12:15:59","modified_gmt":"2025-09-20T09:15:59","slug":"ahromatopsiya-dalag-pat-bez-patevoditel","status":"publish","type":"post","link":"https:\/\/zvezdinka.com\/en\/ahromatopsiya-dalag-pat-bez-patevoditel\/","title":{"rendered":"Achromatopsia: a long way without a guidebook"},"content":{"rendered":"
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The first doubts<\/h2>

For many years we didn't know what Zara's diagnosis was. Not because we weren't looking, but because no one knew what we were looking for.<\/p>

It all started when Zara was just 9-10 months old. I noticed a very subtle fluttering of her eyes - nystagmus. Nystagmus is often a symptom of serious neurological conditions, so our first task was to rule out serious diagnoses.<\/p>

After examinations and tests it became clear that the cause was not neurological. This drew our attention to eye diseases.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Search for answers<\/h2>

Zara met her first birthday with dilated pupils. The ophthalmologist then concluded that everything was fine. But time passed, and I could see that something was wrong.<\/p>

At 2 and a half years old, she started to get very irritated by the sun and kept squinting. This is how we got to Assoc. Veleva, who has been tracking her condition to this day. At this age Zara put on her first glasses - plain clear glasses.<\/p>

Gradually, however, Zara began to find it harder and harder to recognise colours, and her eyesight deteriorated. Without a specific diagnosis, all we heard was \"a form of macular degeneration,\" a diagnosis that, instead of comforting, brought fear in my mind of potential progressive vision loss.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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The meeting with prof. Temel<\/h2>

When Zara turned six, chance (did it?) led us to a video on social media.
Prof. Temel from Istanbul talked about telescopic glasses for people with low vision. He worked for many years with children with albinism. I, on the other hand, was a member of ocular albinism groups, as the symptoms of this disease and Zara's were the same. And that's how I came across the video.<\/p>

We decided to look it up. So Zara celebrated her sixth birthday in Istanbul, at the professor's check-up. He suggested that her condition was a form of cone or rod-cone dystrophy - yes, that's a form of macular degeneration again. Prof. Temmel agreed with everything Prof. Veleva prescribed and felt she could start using his telescopic glasses.<\/p>

In September of that year, Zara started wearing them - for far vision. It's important to note that what differentiates these glasses from the classic telescope glasses is that it is placed on the inside of the glass and is much harder to see than the others. In addition - it allows the person wearing them to move, walk, even run.
Thanks to them, she is doing perfectly normally at school.<\/p>