Diffuse Choroidal Atrophy and Klinefelter Syndrome

Abstract

We report the first case of diffuse choroidal atrophy associated with Klinefelter syndrome. Retinal findings included midperipheral bone corpuscular pigmentation, large areas suggestive of choroidal atrophy, and unusual golden crystalline structures that apparently were mainly in the neurosensory retina. A sensorineural hearing deficit was also noted. Biochemical studies, including amino acid blood levels, were within normal limits. This case is of interest because of the rarity of association between Klinefelter syndrome and retinal or, in fact, any ocular abnormalities.

Microspherophakia and lens subluxation in Klinefelter syndrome: A case report

“…Various ophthalmological abnormalities have been reported in clinical reports on Klinefelter syndrome, including uveal coloboma, microphthalmia, cataract, diffuse choroidal atrophy, and juvenile glaucoma. 3 4 5 6 7 Since no other apparent cause of early-onset cataract and lens subluxation could be withheld in our case, we performed a literature search in PubMed and Embase to evaluate the possible association of microspherophakia and lens dislocation/lens subluxation in Klinefelter syndrome. To our knowledge, we only found one reported case from 1962 of microspherophakia associated with Klinefelter syndrome.…”

Aberrant ocular architecture and function in patients with Klinefelter syndrome

“…As mentioned in the Introduction, there are several cases of ocular problems in KS patients, such as choroidal atrophy 13 , 15 , iris coloboma 14 or iris malformation 16 , cataract 16 , ocular hypertension 17 , 18 or diabetic retinopathy 19 , just to name a few. However, it is difficult to suggest a correlation between these problems and the Klinefelter syndrome, because these problems arise also in many healthy men and women, and the link between these problems and the presence of one or more additional X chromosomes is not known.…”

“…Based on these findings, we hypothesized that ocular blood flow in these patients might also be affected, since the eye is strongly perfused and reacts sensitive to vascularisation changes. Although KS is investigated since its discovery in 1942 12 , eye health and function of KS patients have never been assessed systematically beyond few isolated case reports demonstrating ocular abnormalities in 47,XXY patients 13 – 19 . However, whether these findings are directly related to the KS syndrome as such remains elusive.…”