Intrauterine Cataract Diagnosis and Follow-up

In this article, we report a 21-gestational-week fetus diagnosed with congenital cataract by ultrasonography. The parents decided to terminate the pregnancy and asked for examination of the fetus. An amniocentesis was performed for fetal karyotyping. After termination of the pregnancy, fetal autopsy was conducted. Whole exome sequencing (Trio-WES) analysis of the mother and father was done from peripheral blood samples. In the pathologic autopsy report, bilateral anterior and posterior subcapsular cataracts were confirmed. Whole exome sequencing analysis revealed a previously unreported class 3 variant of uncertain significance (c755A>G [P.Lys252Arg]) of the CRYBB1 gene, which is associated with congenital cataract, that was homozygous in the fetus and heterozygous in the parents. The obtained result is consistent with a genetic diagnosis of isolated autosomal recessive cataract.

Colour Doppler examination of early and late orbital haemodynamic changes in eyes with eyelid oedema due to blunt trauma.

PURPOSE: To evaluate the early and late alterations in orbital blood flow parameters in eyes with severe eyelid swelling due to blunt trauma by using colour Doppler ultrasonography (CDU). METHODS: Blood flow parameters in the ophthalmic artery (OA), central retinal artery (CRA), short posterior ciliary arteries (SPCAs) and central retinal vein (CRV) were examined by CDU in 62 eyes of 31 patients with unilateral blunt trauma and in 32 eyes of 32 normal subjects. Patients were examined within the first 5 days and at least 1 month after trauma. The traumatized eyes of patients were designated 'trauma eyes', non-traumatized fellow eyes were designated 'fellow eyes', and randomly chosen eyes of control subjects 'control eyes'. RESULTS: In the early phase, peak systolic velocity (PSV) and end diastolic velocity (EDV) in the OA in trauma eyes were statistically significantly higher than in both fellow eyes and control eyes: the p-values for the differences in PSV and EDV between trauma eyes and fellow eyes were p < 0.001 and p = 0.001, respectively, while the p-values for the differences in PSV and EDV between trauma eyes and control eyes were p = 0.002 and p = 0.019, respectively). No other blood flow parameters obtained at the first examination in all groups were statistically different. In the late phase, PSV in the OA in trauma eyes was found to be higher than that in both fellow eyes and control eyes, but the difference was significant only between trauma eyes and fellow eyes (p = 0.028). End diastolic velocity in the CRA was statistically significantly lower in fellow eyes than in control eyes (p = 0.046). No other blood flow parameters in any vessels examined in fellow eyes and control eyes were statistically significantly different during the study period. CONCLUSION: Blood flow velocities detected by CDU are increased in the OA in eyes with eyelid oedema due to blunt trauma and some of these changes may persist for up to 1 month. This effect seems to be a consequence of trauma-induced hyperaemia in the orbital soft tissues rather than an expression of traumatic choroidal vasculopathy.