|Year : 2020 | Volume
| Issue : 3 | Page : 206-208
A rare case of senior loken syndrome
Jaisingh Ramapriyadharshini, Krishnamurthy Ilango, Elango Vidhya
Department of Ophthalmology, Velammal Medical Hospital and Research Institute, Madurai, Tamil Nadu, India
|Date of Submission||24-Mar-2020|
|Date of Decision||21-Apr-2020|
|Date of Acceptance||01-May-2020|
|Date of Web Publication||14-Sep-2020|
Dr. Jaisingh Ramapriyadharshini
V4d,Vaigai Apartment,Velammal Medical College Hospital And Research Institute,Anuppanadi, Madurai - 625 009, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Senior Loken syndrome is a rare autosomal recessive genetic disorder. This syndrome mainly targets kidney and eye. Nephronophthisis, a chronic kidney disorder, is the common renal manifestation of this syndrome. End-stage renal disease eventually occurs during adulthood if not intervened. Thus, Senior Loken syndrome is a rare combination of chronic kidney disease, anemia, bronchiectasis, and retinitis pigmentosa. Retinitis pigmentosa that starts in early childhood is the typical ocular manifestation of this syndrome although Leber congenital amaurosis occurs in severe cases. Retinitis pigmentosa is a type of retinal dystrophy affecting mainly rods and cones in a later stage. Although X-linked inheritance causes severe form of retinitis pigmentosa, autosomal recessive is the most common mode of inheritance where retinitis pigmentosa forms part of many systemic syndromes. Night blindness is the presenting symptom which progresses to tubular vision in later stages, with the characteristic fundus features of bony spicule, arteriolar attenuation, and waxy pallor of the disc. Counseling of patient and caretakers about the course of disease and the need for low-vision aids in later stages is vital in retinitis pigmentosa patients. Patients should also be educated about the need for regular nephrology and ophthalmology follow-up to prevent further morbidity.
Keywords: Bronchiectasis, night blindness, retinitis pigmentosa, Senior Loken syndrome
|How to cite this article:|
Ramapriyadharshini J, Ilango K, Vidhya E. A rare case of senior loken syndrome. TNOA J Ophthalmic Sci Res 2020;58:206-8
| Introduction|| |
Senior Loken syndrome, a rare autosomal recessive genetic disorder, affects one in one million population. According to the literature, fewer than 10 cases are reported so far. The common manifestations of this syndrome include retinal dystrophies and nephronophthisis.,, Major ocular manifestations are retinitis pigmentosa and Leber congenital amaurosis. Other systemic associations are anemia and bronchiectasis. Renal involvement in children leads to life-threatening end-stage renal disease during the adolescence.,,
| Case Discussion|| |
A 14-year-old male with chronic kidney disease and old pulmonary tuberculosis presented with the complaints of hemoptysis, cough, and abdominal pain. There was no history of fever, breathlessness, and trauma. The patient is a known case of chronic kidney disease under treatment for the past 1 year.
General examination was normal. Vitals were stable. Physical examination revealed coarse crackles in the lung base. Cardiovascular system and abdomen were normal.
On ocular examination, his best-corrected visual acuity in both eyes was 6/24, and anterior segment examination was normal. Fundus examination of both eyes revealed waxy pallor of disc, arteriolar attenuation, and bony spicule in the midperiphery with maculopathy. Visual fields were normal. A clinical diagnosis of typical retinitis pigmentosa with maculopathy was made [Figure 1].
Laboratory investigation reports were random blood sugar – 80 mg/dl, total blood count – 8800 cells/cumm, lymphocyte – 33%, monocytes – 7%, eosinophils – 3.6%, basophils – 0.6%, red blood cells count – 2.90 ml/cumm, hemoglobin – 8.7 g/dl, hematocrit – 26%, platelet count – 325,000 cells/cumm, sputum acid fast bacilli – no growth, blood urea – 55 mg/dl, serum creatinine – 3.5 mg/dl, serum ALP – 147 IU/L, calcium – 7.5 mg/dl, phosphorus – 5 mg/dl, magnesium – 1.5 mg/dl, chloride – 115 mEq/l, plasma bicarbonate – 13 mmol/L, serum uric acid – 3.8 mg/dl, serum sodium – 138 mEq/l, serum potassium – 3.4 mEq/L.
Computed tomography of the thorax (plain) [Figure 2] revealed tubular and dilated cystic spaces noted in the right middle lobe and left lower lobe, with patchy consolidation in the left upper lobe. A diagnosis of bronchiectasis and old pulmonary tuberculosis sequelae was made by the pulmonologist.
|Figure 2: Computed tomography thorax (plain) showing tubular cystic spaces suggestive of bronchiectasis in the right middle lobe and left lower lobe|
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The patient was diagnosed as chronic kidney disease with nephronophthisis and treated accordingly by a nephrologist.
A regular pulmonology, nephrology, and ophthalmology follow-up was advised. The natural progressive course of retinitis pigmentosa with requirement of low-vision aids at a later stage was explained to the patient and his parents.
Based on the combined presentation of chronic kidney disease, anemia, bronchiectasis, and retinitis pigmentosa, the diagnosis of Senior Loken syndrome wad made.
| Discussion|| |
Senior Loken syndrome is a rare genetic syndrome with autosomal recessive inheritance., It mainly affects two vital organs: kidney and eye. Most common ocular manifestation of this syndrome includes retinitis pigmentosa, a rod cone dystrophy disorder. Children present with night blindness, constriction of peripheral fields, and tunnel vision, eventually leading to total blindness. The classical triad of retinitis pigmentosa is arteriolar attenuation, midperipheral intraretinal perivascular bone spicule pigmentary changes, and waxy disc pallor. Gradually, the retinal pigmentation will increase with anterior and posterior spread, leading to tunnel vision. The macula may show atrophy, epiretinal membrane formation, and cellophane maculopathy. Electroretinogram (ERG) will show reduced scotopic and combined response. In advanced cases, extinguished ERG is seen.
Leber congenital amaurosis, a severe form of rod cone dystrophy, is a rare ocular association of this syndrome, which causes visual impairment in infants and children with poor prognosis. The presenting features are hypermetropia, photophobia, nystagmus, frequent eye rubbing called as oculo-digital syndrome, leading to enophthalmos and blindness. Fundus shows initial mid peripheral retinal pigmentation, arteriolar attenuation, severe macular pigmentation progressing to coloboma-like atrophy of macula, and optic atrophy during early childhood. ERG is usually nonrecordable even in early cases with normal fundi.
Management includes refractive error correction and visual rehabilitation in the form of low-vision aids to improve the quality of life. Appropriate counseling of the patient and caretakers regarding the disease progression and need for systemic evaluation is of prime importance. Currently, no specific treatment is curative for this condition. Renal manifestations can be managed in early cases by maintaining electrolyte and fluid balance. In advanced stages with end-stage renal disease, dialysis and renal transplantation may be needed.
| Conclusion|| |
This case is reported for its rarity and to stress the importance of systemic evaluation in all Retinitis pigmentosa patients. Multidepartmental intervention is needed. Although definitive treatment is not available, early diagnosis, appropriate management, and educating the importance of follow-up will improve the quality of life and survival.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]