HIPERTENSÃO OCULAR SECUNDÁRIA À LUXAÇÃO DE CRISTALINO PARA CÂMARA ANTERIOR NA SÍNDROME DE MARFAN

Marfan syndrome (MFS) is a rare autosomal dominant metabolic disorder, caused by mutations in the gene responsible for coding the fibrillin-1 protein. It is characterized by cardiovascular, musculoskeletal and ocular manifestations. The purpose of this report was to present a rare ophthalmologic complication in a patient with MFS. Female, 51 years old, attended the emergency room complaining of severe pain, low visual acuity and hyperemia in the right eye, started two days before. Biomicroscopy: ectopia lentis (luxated) for anterior chamber; Tonometry: 56 mmHg. Hypotensive drugs were prescribed which reduced intraocular pressure (IOP) to 8 mmHg. Referred for emergency surgery (facectomy without IOL implantation) in order to avoid further damage to the cornea and optic nerve. In the post operative period, presented IOP control and improved VA to 20/50. Multidisciplinary follow-up is necessary in patients with MFS, enabling early diagnosis, which can prevent and minimize any complications.

Endoscopy-guided in vivo evaluation of ciliary sulcus location in children with ectopia lentis

Objective To assess a new method to measure the distance of the needle passage from the ciliary sulcus to the corneal limbus anterior border (CTC) in eyes with ectopia lentis directly in vivo via endoscopy and to further evaluate the correlations among the CTC, age, automated horizontal white-to-white distance (WTW), and ocular axial length (AL). Methods The WTW and AL were measured using an optical biometer. An intraocular endoscope was used during transscleral suture fixation of posterior chamber intraocular lenses to identify the true location of the ciliary sulcus. Linear regression analysis was used to assess the correlation between the CTC and other ocular biological parameters, including age, WTW, and AL. Results Thirty eyes of 30 children with ectopia lentis were evaluated. A statistically significant correlation was found between age and the CTC. The CTC could be predicted by the equation CTC = 0.1313 × Age + 0.9666. No statistically significant correlations were found between CTC and WTW, CTC and AL, WTW and AL, or WTW and age. Conclusion Endoscopy is useful for precisely suturing intraocular lens haptics in the real ciliary sulcus. Age can be used as an equivalent parameter for prediction of the true ciliary sulcus location.

Analysis of Corneal Spherical Aberrations in Chinese Bilateral Ectopia Lentis Patients

Purpose: To analyze the anterior, posterior, and total corneal spherical aberrations (ASA, PSA, and TSA) in patients with Chinese bilateral ectopia lentis (EL).Methods: A cross-sectional study was conducted to evaluate corneal spherical aberration (CSA) using a Pentacam system at the 6-mm optical zone. Axial length, keratometry, astigmatism, and corneal asphericity were also determined.Results: This study included 247 patients (420 eyes) with a mean age of 18.1 years. The values of ASA, PSA, and TSA were 0.136 ± 0.100 μm, −0.118 ± 0.030 μm, and 0.095 ± 0.095 μm, respectively. In the EL patients with Marfan syndrome (MFS), ASA and TSA were significantly lower than in the non-MFS patients (0.126 ± 0.094 μm vs. 0.155 ± 0.107 μm, P = 0.004 for ASA; 0.085 ± 0.091 μm vs. 0.114 ± 0.099 μm, P = 0.003 for TSA), whereas PSA was not significantly different (P = 0.061). The values of ASA and TSA were significantly higher in the patients with EL aged ≥ 40 years old than in younger patients, whereas ASA and PSA were lower in patients aged <10 years old than in older patients (all P < 0.05). In the multiple linear regression analysis, age, keratometry, astigmatism, anterior asphericity, higher-order aberration (HOA), and lower-order aberration (LOA) were positively or negatively correlated with TSA in the patients with EL (r = 0.681, P < 0.001).Conclusions: Corneal spherical aberration was low in the patients with EL especially for MFS and tended to increase with aging. Preoperatively, individual measurement of CSA was necessary for bilateral EL patients with MFS.

Early Development of Newborn Screening for HCU and Current Challenges

Classic homocystinuria (HCU) was added to newborn screening (NBS) by Robert Guthrie a few years after the disorder was first described. The justification for NBS was similar to that for PKU, that presymptomatic identification and early dietary treatment would prevent the clinical consequences, which, for HCU, are mental deficiency, ectopia lentis, skeletal abnormalities, and thromboembolism. It was assumed that identifying increased methionine in the screening blood specimen would identify all affected neonates. However, it is now clear that many with HCU are missed by NBS, mainly because the methionine level in the first days of life is normal or below the cutoff level in the NBS program. This includes virtually all of those with B6-responsive HCU. Thus, a more effective method of NBS for HCU should be considered. Included among the possibilities are decreasing the methionine cutoff level, requiring an increase in the Met/Phe ratio if the methionine level is not at or greater than the cutoff level, using methionine as the primary screen with homocysteine as a second-tier test, or replacing methionine with homocysteine as the primary screen. Homocysteine is the primary metabolite that increases in HCU, while the methionine increase is secondary, so homocysteine is usually increased before the increase in methionine, almost always during the first few days of life. Finally, targeted gene screening might be considered. All of these possibilities would impose added expense and labor to NBS, so meeting these challenges would likely require a regional or national effort.

Spontanious luxation of the lens in Marfan syndrome

We report the case of a 22-year-old-man, who presented to the ophthalmic emergencies for decreased visual acuity since 2 days. The clinical examination found visual acuity reduced to counting fingers in the right eye and 3/10 in the left eye. and an anterior lens dislocation in the right eye, while the examination of the left eye after pupillary dilation, revealed lens dislocation in the superonasal direction and absence of zonules from 2 to 5 o’ clock position. The posterior segment examination was normal in both eyes. Otherwise, on general examination we noticed Marfan syndrome characteristic. In our case of the retained diagnosis was Marfan syndrome. The first clinical description was in 1896 by Antoine-Bernard-Jean Marfan [1], which is a rare genetic disease, that touch the conjunctive tissue of many organs, as well the eye that can present many abnormalities as: Ectopia lentis in 50-80%, which is commonly bilateral and many other manifestations also can be seen [2,3].

Adapted Bag-in-the-Lens Implantation Technique in Children with Congenital Ectopia Lentis

Background Subluxation of the crystalline lens in childhood confronts the surgeon with a dilemma: to operate or to wait and see. Surgery is usually not performed when the subluxation is still limited. However, postponing the surgery increases the surgical difficulty as the capsular bag becomes more difficult to use as a means of support for the intraocular lens (IOL). A large number of children already present a pronounced subluxation at first presentation. In this paper, we describe a technique to optimise centration and fixation of the bag-in-the-lens (BIL) IOL in children younger than 7 years of age with congenital ectopia lentis. Methods Between October 2019 and December 2020, we performed lens extraction using a combination of bean-shaped segments to support the BIL IOL and a 6 – 0 polypropylene loop fixated at the sclera, following the Yamane technique, for the purpose of centration. We used this technique for seven eyes of four patients. The patients were between 2 and 6 years old; 3 boys and 1 girl. A definite diagnosis of Marfan syndrome was made for two children; for the other two, there was no proven underlying pathology. The luxation was upwards in all cases. The degree of luxation was severe in all eyes. The preoperative refraction values showed high astigmatism values for all eyes, ranging from 6.5 to 11.25 dioptres. Three out of the four patients were myopic, ranging from − 1.5 to − 9 dioptres. Results The surgery could be performed without major complications in all eyes. Good centration was obtained, which remained stable in the postoperative period. Refraction improved with greatly diminished degrees of astigmatism (ranging from 0.25 to 3 dioptres) and myopia (spheres ranging from − 2 to + 1.75 dioptres). Conclusion Our novel technique incorporated the BIL technique with the addition of bean-shaped segments and a polypropylene 6/0 suture fixated at the sclera. In this way, we were able to obtain good centration and stability of the implanted IOL, as well as a good refractive outcome in all cases.