You know, how many more things can a poor little gal have?
Amanda saw the opthamologist today, we were really worried about her strabismus, it is pretty severe, but probably because she is extremely far sighted, she will have to wear glasses, we tried some on her today, ahhhhh, she looks so cute! Doc says if she needs them, she will leave them on, I hope so. With her face shaped the way it is and that tiny nose, her glasses do not even rest on the bridge.
Something had always bothered me about Amanda's eyes, since that first picture of her on RR, I thought they looked abnormal, it was the size of her pupils that bothered me. They are huge, I thought they must be giving her meds to make her sleep (Benedryl). Still they do not constrict (get smaller in bright light) as much as they should, but I thought they were getting better.
The opthamologist said it worried him, her pupillary light response is delayed and one pupil seems to bleed into her right eye. He then asked if we knew if she had another genetic condition in addition to her Down syndrome, and we said no, we did not know. He said he thought she had Aniridia.
He wrote this to her pediatrician-verbatim:
Amanda has REALLY LARGE pupils and on my exam I am concerned that she may have a partial expression of anaridia. The raises the possibility of Wilms tumor. I would suggest that a kidney ultrasound be considered and an evaluation by a dysmorphologist.
From this website: http://www.aniridia.org/conditions/
Aniridia literally means "without iris." In most cases this is the most visible sign of the condition. However, aniridia is caused when the gene responsible for eye development - the PAX6 gene - does not function correctly. This causes the eye to stop developing too early and when the baby is born most of the eye is underdeveloped to some degree. Some aniridic eyes are more developed than others and therefore it is difficult to say exactly how aniridia will progress in an individual, however, in general people with aniridia are prone to.
Aniridia may be broadly divided into hereditary and sporadic forms. Hereditary aniridia is usually transmitted in an autosomal dominant manner (each offspring has a 50% chance of being affected), although rarer autosomal recessive forms (such as Gillespie syndrome) have also been reported. Sporadic aniridia mutations may affect the WT1 region adjacent to the AN2 aniridia region, causing a kidney cancer called nephroblastoma (Wilms tumor). These patients often also have genitourinary abnormalities and mental retardation (WAGR syndrome)
So after he told us about that, he asked if we knew about her family history, which we do not, but maybe can find out, I have to ask our agency? If it was hereditary, perhaps it is not as bad? Still, she will need karyotyping to determine if she does indeed have another syndrome. That said, I just don't feel like Amanda has Anaridia, but we will find out soon.
Kara does not need glasses, he thinks her Nystagmus is associated with her Down syndrome, and her strabismus is mild. Thank goodness for that!
Both girls go back in 6 months.
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