|Year : 2021 | Volume
| Issue : 1 | Page : 127-129
A new phenotype of Kartagener's syndrome: An interesting case report
Kalpana Badami Nagaraj1, Kavitha L Tumbadi2, B Ravi2, YD Shilpa2, G Bhavna2, BC Hemalatha2
1 Department of Ophthalmology and Chief of Vitreoretina, Minto Ophthalmic Hospital and Regional Institute of Ophthalmology, Bengaluru, Karnataka, India
2 Minto Ophthalmic Hospital and Regional Institute of Ophthalmology, Bengaluru, Karnataka, India
|Date of Submission||28-May-2020|
|Date of Acceptance||14-Jul-2020|
|Date of Web Publication||31-Dec-2020|
Dr. Kalpana Badami Nagaraj
Prof and HOD, Department of Ophthalmology, Chief of Vitreoretina, Minto Ophthalmic Hospital and Regional Institute of Ophthalmology, Chamarajpet, Bengaluru - 560 014, Karnataka
Source of Support: None, Conflict of Interest: None
Kartagener's syndrome (KS) is Primary Ciliary Dyskinesia, autosomal recessive disorder characterised by triad of situs inversus of viscera, sinusitis, bronchiectasis due to ciliary dysfunction. Primary ciliary dyskinesia - retinitis pigmentosa syndrome is an X-linked ciliary dysfunction of respiratory epithelium and photoreceptors of retina leading to ocular disorders associated with chronic bronchiectasis, sinusitis and. sensorineural hearing loss. Here we present one such case of Kartagener's syndrome with Retinitis Pigmentosa (RP) which was also associated with Retinal Detachment (RD) in short stature individual reported for the first time, to the best of our knowledge which could be a new phenotypic presentation in Primary Ciliary Dyskinesia.
Keywords: Kartagener's syndrome, primary ciliary dyskinesia, retinal detachment, retinitis pigmentosa, short stature
|How to cite this article:|
Nagaraj KB, Tumbadi KL, Ravi B, Shilpa Y D, Bhavna G, Hemalatha B C. A new phenotype of Kartagener's syndrome: An interesting case report. Indian J Ophthalmol Case Rep 2021;1:127-9
|How to cite this URL:|
Nagaraj KB, Tumbadi KL, Ravi B, Shilpa Y D, Bhavna G, Hemalatha B C. A new phenotype of Kartagener's syndrome: An interesting case report. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Feb 26];1:127-9. Available from: https://www.ijoreports.in/text.asp?2021/1/1/127/305499
Kartagener's syndrome (KS) or Primary Ciliary Dyskinesia is an autosomal recessive disorder characterized by a triad of situs inversus of viscera, sinusitis and bronchiectasis; pathogenesis being ciliary dysfunction. It is also known as Afzelius syndrome, Zivert's syndrome or Zivert-Kartagener's triad.
An X-linked ciliary dysfunction of respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, reduced ERG responses) associated with chronic bronchiectasis, chronic sinusitis and sensorineural hearing loss is know as Primary ciliary dyskinesia - retinitis pigmentosa syndrome.
| Case Report|| |
A 17-year-old girl with deaf mutism, presented to us with painless, sudden dimness of vision in her RE past 4 months. She also had nyctalopia.
Her medical records revealed productive cough with expectoration with chronic maxillary sinusitis [[Figure 1] CT PNS]. She was born of 3rd degree consanguinity. Two of her maternal relatives had nyctalopia, suggestive of autosomal recessive inheritance.
She weighed 37 kg, with a height of 141 cm (<-3 SD), short stature, head circumference 52 cm and BMI 18.3 Kg/m2. Her vitals were normal. Apex beat was localized to right fifth intercostal space on mid-clavicular line, liver dullness was on left side suggestive of situs inversus [Figure 2]a. Bilateral, lower zone, coarse leathery crepitations were present on inspiration and expiration suggestive of Bronchiectasis [Figure 2]b.
|Figure 2: (a) CT Chest and Abdomen (coronal) (b) CT Chest (axial) showing situs inversus, hilar infiltrates and cavitation|
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Best Corrected Visual acuity (BCVA) was counting fingers close to face in the RE and 6/18 in the LE. RAPD was noted in RE. Anterior segment and IOP were otherwise unremarkable in BE. RE fundus [Figure 3]a showed total rhegmatogenous RD with pucker involving the break in the superotemporal quadrant. A vascular frond was extending from the superior arcade to the pucker [Figure 3]b. Peripheral bony spicules were noted. LE fundus had peripheral bony spicules suggesting RP [Figure 4]a and [Figure 4]b. OCT RE [Figure 5] showed neurosensory detachment at macula, involving fovea. On B scan RE [Figure 6], total RD was noted.
|Figure 5: OCT with neurosensory retinal detachment at the macula, involving the fovea|
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Chest X-Ray revealed hilar infiltrates with cavitation and situs inversus. 2D echo confirmed dextrocardia. USG Abdomen and CT abdomen showed situs inversus. BERA test showed severe impairment of auditory pathway bilaterally. VEP showed attenuated wave forms in both the eyes.
Diagnosis of Primary Ciliary Dyskinesia (Kartageners) RP Syndrome associated with Rhegmatogenous RD was made. RE Segmental Scleral Buckling with encirclage was done, retinal break was cryoed. On post op day 1, retina was on and retinal break was flat. At one month follow-up, uncorrected visual acuity was counting fingers at 2 meters, retina remained attached.
| Discussion|| |
Kartagener syndrome (KS) or Primary Ciliary Dyskinesia, a triad of situs inversus, bronchiectasis and paranasal sinusitis; is named after Dr. Manes Kartagener.
The incidence of primary ciliary dyskinesia (PCD) is 1 per 10000 to 20000 births. However, its frequency is to determine due to diagnostic difficulty.
Apart from lungs, spermatozoa and Fallopian tube More Detailss, the retinal pigment epithelium may also be affected by ciliary dysfunction in individuals with Kartagener syndrome (KS). Sometimes, the diagnosis is suspected prenatally when situs inversus is documented in obstetric ultrasound or early childhood due to repeated respiratory infections.
Primary ciliary dyskinesia-retinitis pigmentosa syndrome is X-linked ciliary dysfunction of respiratory epithelium and photoreceptors of retina leading to ocular disorders. The predominant mode of inheritance is autosomal recessive inheritance.
A significantly higher prevalence (one in 2265) has been reported in a British Asian population where consanguineous marriages are common.
The diagnostic tests are available in specialized centres (nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, immunofluorescence and genetics). PICADAR (PrImary CiliAry Dyskinesia A Rule) could potentially be used to estimate the diagnostic likelihood of patients, but the score needs validation in different settings and populations.
Hunter et al. was first to report retinal ciliopathies as there was similarity in structure between the cilium in photoreceptors and flagellum in sperm. The outer segments of retinal photoreceptor rods and cones are formed from primary cilia. Recent advances in molecular genetics have shown several genes associated with retinal cilia such as RP1, RPGR and RPGR-IP play role in retinal degeneration. Specifically X-linked mutations in RP GTPase Regulator (RPGR) gene have been associated with retinal ciliopathies seen in PCD, RP and macular degeneration. Rhegmatogenous RD in eyes with RP is rare. Visual prognosis remains poor despite satisfactory surgical outcomes. Congenital developmental anomalies account for 53% of RRD.
Ours is one such case of PCD with RP and RRD in a short stature individual with autosomal recessive inheritance. RRD when managed on time, can have satisfactory outcome.
Understanding the underlying concept of ciliopathies leads the ophthalmologist to have a high degree of suspicion that a systemic finding may be present in a patient with RP and RD. If a person with recurrent respiratory infections attends consultation and also presents with structural alterations in the lungs, PCD should be considered and retina should be examined for RP and RD. This case is being reported for the first time in literature, to the best of our knowledge. However, further studies are needed to understand the effect of ciliary dysfunction on retina and its association with RD.
| Conclusion|| |
The possibility of RD associated with RP and PCD, though a rare combination, should be considered in young patients with significant systemic involvement.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Potdar PV, Nayak MM, Chitnis A. Kartagener's syndrome. Med J DY Patil Univ 2012;5:158-160. [Full text]
Krawczynski MR, Witt M. PCD and RP: X-linked inheritance of both disorders? Pediatr Pulmonol 2004;38:88–9.
Knowles M, Zariwala M, Leigh M. Primary ciliary dyskinesia. Clin Chest Med 2016;37:449-61.
Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown III DE, et al
. Primary ciliary dyskinesia in Amish communities. J Pediatr 2010;156:1023-5.
O'Callaghan C, Chetcuti P, Moya E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child 2010;95:51-2.
Behan L, Dimitrov BD, Kuehni CE, Hogg C, Carroll M, Evans HJ, et al
. PICADAR: A diagnostic predictive tool for primary ciliary dyskinesia. Eur Respir J 2016;47:1103-112.
De Brauwer PJ, Blaise P, Hermans G, Boniver V, Bartsch P, Rakic JM. Retinitis pigmentosa and bronchiectasis: A case report on a rare association suggestive of a common underlying primary ciliary dyskinesia (PCD). Bull Soc Belge Ophtalmol 2010;314:9-14.
Garcia MD, Ventura CV, Dias JR, Chang TCP, Berrocal AM. Retinal pigment epithelium changes in Kartagener syndrome. Am J Ophthalmol Case Rep 2018;10:119-21.
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, et al
. Retinal Detachment in 31 Eyes with Retinitis Pigmentosa. Ophthalmol Retina 2018;2:10-6. doi:10.1016/j.oret.2017.03.012. PMID: 31047295.
Nuzzi R, Lavia C, Spinetta R. Paediatric retinal detachment: A review: Int J Ophthalmol 2017;10:1592-603.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]