Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease.

Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.

Relationship Between Optic Nerve Head Drusen Volume and Structural and Functional Optic Nerve Damage.

PURPOSE: The purpose of this study is to assess the relationships between optic nerve head drusen (ONHD) volume, retinal nerve fiber layer (RNFL) thickness and visual field (VF) loss. METHODS: Patients with ONHD and no other ocular or systemic conditions that can affect RNFL or VF were enrolled. Serial enhanced depth imaging (EDI) optical coherence tomography (OCT) B-scans of the optic nerve head (interval between scans, ~30 µm) were obtained from each participant. ONHD volume was calculated for each eye by delineating the ONHD masses in each OCT B-scan using 3-dimensional reconstruction software. RESULTS: A total of 47 eyes (28 patients) with ONHD were included (mean age, 57±16 y). ONHD volume varied considerably [0.265±0.227 (range, 0.005 to 0.855)] mm. Linear and quadratic regression analyses demonstrated that ONHD volume is significantly associated with both global average RNFL thickness (linear R=0.531, quadratic R=0.557; P<0.001) and VF mean deviation (linear R=0.519, quadratic R=0.522; P<0.001). ONHD were most prevalent in the nasal quadrant (46 eyes, 98%), followed by superior, inferior and temporal quadrants [35 (74%), 30 (64%), and 16 (34%) eyes respectively]. The proportion of eyes with OCT RNFL defects (81%; 38/47 eyes) was significantly greater than that with VF defects (60%; 28/47 eyes) (P<0.001). RNFL defects were detected in 10 of the 19 eyes with no VF defects. RNFL defects were detected in all 28 eyes with VF defects. CONCLUSIONS: ONHD volume generally correlates with structural and functional optic nerve damage.

Characteristics and variations of in vivo Schlemm's canal and collector channel microstructures in enhanced-depth imaging optical coherence tomography.

BACKGROUND/AIMS: To characterise in vivo Schlemm's canal (SC) and collector channels (CC) microstructures using enhanced-depth imaging (EDI) optical coherence tomography (OCT). METHODS: Serial horizontal EDI OCT B-scans (81 scans, 15×5° rectangle) were prospectively obtained in the nasal and temporal limbus. SC cross-sectional area (CSA) was measured by delineating its lumen in each B-scan. CCs connected to SC were counted. SC CSA and the number of CCs were compared between the nasal and temporal areas. RESULTS: Eleven eyes (11 normal subjects) were included (mean age, 28±5 years). SC and CCs were clearly demarcated in EDI OCT B-scans with excellent repeatability and reproducibility (intraclass correlation coefficients, 0.830-0.886 and 0.793, respectively; all p<0.001). SC CSA varied considerably among subjects, ranging from 1664 to 6007 µm2 (average, 3514±1235 µm2), and among different regions of the same eye with coefficient of variation in each eye ranging from 23% to 46% (average, 32±7%). The number of CCs in the analysed area also varied considerably among subjects, ranging from 5 to 11 (average, 8.73±1.85). The mean SC CSA (3839±1402 µm2 vs 3189±1209 µm2; p=0.033) and number of CCs (5.5±1.4 vs 3.3±1.1; p=0.001) were significantly greater nasally than temporally. The mean SC CSA was significantly correlated with the number of CCs (r=0.635, p=0.036). CONCLUSIONS: High-quality images of the aqueous outflow pathway can be obtained with a clinical device, avoiding postacquisition processing. In vivo SC and CC microstructures vary considerably among individuals and regions. SC tends to be larger in regions with more CCs.

Effects of corneal cross-linking on contrast sensitivity, visual acuity, and corneal topography in patients with keratoconus.

PURPOSE: To assess the effects of corneal collagen cross-linking (CXL) on contrast sensitivity (CS), visual acuity, and corneal topography investigating possible predictors of efficacy. METHODS: Sixty-eight eyes of 34 patients with progressive keratoconus were enrolled in this prospective study. CXL was performed in one eye and the other eye was left untreated as a control. CS, best spectacle-corrected visual acuity (BSCVA), simulated keratometry in the steepest meridian (SimK-s), mean power in the central 3-mm zone (C-MP), mean power in the paracentral 3- to 5-mm zone (P-MP), maximum keratometric power in the central zone (C-Kmax), and maximum keratometric power in the paracentral zone (P-Kmax) were evaluated at baseline, 40 days, 3 months, 6 months, 1 year, and after 2 years of follow-up. RESULTS: Treated eyes showed an improvement (P < 0.001) of +0.16 logCS and -0.16 logarithm of the minimum angle of resolution (logMAR) and a reduction in SimK-s of -0.61 diopter (D), C-Kmax -1.11 D, P-Kmax -0.99 D, C-MP -0.39 D, and P-MP -0.30 D. Of the treated eyes, 43.3% had a decrease in C-Kmax greater than 1 D, 50% by 0 to 0.99 D, and 6.7% had an increase of up to +0.89 D. Treated eyes with keratometric apex in the central 3-mm zone (CKA) improved BSCVA -0.19 logMAR and CS +0.19 logCS; whereas in treated eyes with paracentral keratometric apex (PKA), the improvement was -0.13 logMAR and +0.16 logCS. CONCLUSIONS: CXL with riboflavin and UV-A improved CS and inhibited the progression of keratoconus. As a predictor of treatment efficacy, eyes with CKA showed greater improvement in BSCVA after CXL when compared with eyes with PKA.

Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease / Tricotiodistrofia: relato de caso de glaucoma infantil associado a doença sistémica não adquirida

ABSTRACT Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.

RESUMO A tricotiodistrofia pertence a um grupo de doenças genéticas raras caracterizadas por anomalias da reparação do DNA. Manifestações oculares podem ocorrer em 50% dos casos, incluindo catarata, erros refrativos, estrabismo, microcórnea, microftalmia, olho seco e alterações maculares pigmentares. Relatamos um caso de glaucoma infantil em um paciente com tricotiodistrofia submetido à trabeculectomia no olho esquerdo. No nosso conhecimento, este é o primeiro caso descrito de glaucoma infantil associado à tricotiodistrofia.